Variant report

Variant	rs3789726
Chromosome Location	chr2:110962726-110962727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:110962423-110962826	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:110962442-110962868	HepG2	liver:	n/a	n/a
3	MAX	chr2:110962468-110962907	NB4	blood:	n/a	n/a
4	POLR2A	chr2:110962326-110962826	A549	lung:	n/a	n/a
5	REST	chr2:110962310-110962747	SK-N-SH	brain:	n/a	chr2:110962411-110962429 chr2:110962413-110962426 chr2:110962422-110962435
6	POLR2A	chr2:110962367-110963010	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:110962333-110963052	PFSK-1	brain:	n/a	n/a
8	PAX5	chr2:110962430-110962726	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:110962463-110962924	K562	blood:	n/a	n/a
10	MAZ	chr2:110962224-110962902	GM12878	blood:	n/a	n/a
11	MYC	chr2:110962384-110963069	K562	blood:	n/a	n/a
12	POLR2A	chr2:110962417-110962861	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr2:110962300-110962888	A549	lung:	n/a	n/a
14	UBTF	chr2:110962713-110963001	K562	blood:	n/a	n/a
15	YY1	chr2:110962409-110962797	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:110962349-110962900	GM12892	blood:	n/a	n/a
17	CBX3	chr2:110962383-110962753	K562	blood:	n/a	n/a
18	HDAC2	chr2:110962356-110962757	HepG2	liver:	n/a	n/a
19	MXI1	chr2:110962385-110962803	K562	blood:	n/a	n/a
20	POLR2A	chr2:110962423-110962989	GM12892	blood:	n/a	n/a
21	MTA3	chr2:110962377-110962930	GM12878	blood:	n/a	n/a
22	CREB1	chr2:110962323-110962871	H1-hESC	embryonic stem cell:	n/a	chr2:110962607-110962620
23	ELF1	chr2:110962320-110962826	GM12878	blood:	n/a	chr2:110962440-110962452
24	MAZ	chr2:110962060-110962980	HepG2	liver:	n/a	chr2:110962218-110962228
25	SRF	chr2:110962455-110962757	K562	blood:	n/a	n/a
26	POLR2A	chr2:110962293-110962953	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr2:110962436-110962897	K562	blood:	n/a	chr2:110962628-110962637
28	CHD2	chr2:110962371-110962797	H1-hESC	embryonic stem cell:	n/a	n/a
29	HDAC2	chr2:110962382-110962835	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:110962375-110962869	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr2:110962403-110962870	HUVEC	blood vessel:	n/a	n/a
32	CREB1	chr2:110962323-110962956	GM12878	blood:	n/a	chr2:110962607-110962620
33	CREB1	chr2:110962295-110962899	ECC-1	luminal epithelium:	n/a	chr2:110962607-110962620
34	ZNF143	chr2:110962452-110963440	K562	blood:	n/a	chr2:110962783-110962801 chr2:110962790-110962805
35	SIN3AK20	chr2:110962342-110962734	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr2:110962430-110962762	HepG2	liver:	n/a	n/a
37	JUND	chr2:110962241-110962826	H1-hESC	embryonic stem cell:	n/a	chr2:110962628-110962637
38	POLR2A	chr2:110962344-110962851	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:110962360-110962768	A549	lung:	n/a	n/a
40	SIN3AK20	chr2:110962199-110962777	PANC-1	pancreas:	n/a	n/a
41	GTF2F1	chr2:110962441-110962779	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF1	chr2:110962363-110962896	K562	blood:	n/a	n/a
43	ATF3	chr2:110962346-110962841	GM12878	blood:	n/a	chr2:110962598-110962618 chr2:110962608-110962619 chr2:110962606-110962621 chr2:110962609-110962629
44	POLR2A	chr2:110962309-110962852	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr2:110962403-110962869	HepG2	liver:	n/a	n/a
46	SRF	chr2:110962472-110962731	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:110962262-110962820	MCF-7	breast:	n/a	n/a
48	RCOR1	chr2:110962195-110963070	K562	blood:	n/a	n/a
49	MAX	chr2:110962341-110962990	A549	lung:	n/a	n/a
50	EGR1	chr2:110962477-110962842	K562	blood:	n/a	chr2:110962782-110962806

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110962687-110962737	HRPEpiC	eye:	n/a
2	chr2:110962687-110962737	CMK	blood:	n/a
3	chr2:110962687-110962737	Hela-S3	cervix:	n/a
4	chr2:110962687-110962737	Jurkat	blood:	n/a
5	chr2:110962687-110962737	AG10803	skin:	n/a
6	chr2:110962687-110962737	AG04449	skin:	fetal
7	chr2:110962687-110962737	SAEC	small airway:	n/a
8	chr2:110962687-110962737	PrEC	prostate:	n/a
9	chr2:110962687-110962737	BJ	skin:	n/a
10	chr2:110962687-110962737	NHBE	bronchial:	n/a
11	chr2:110962687-110962737	PFSK-1	brain:	n/a
12	chr2:110962687-110962737	HCT-116	colon:	n/a
13	chr2:110962687-110962737	MCF10A-Er-Src	breast:	n/a
14	chr2:110962687-110962737	NH-A	brain:	n/a
15	chr2:110962687-110962737	Hepatocyte	liver:	n/a
16	chr2:110962687-110962737	HAEpiC	amniotic membrane:	n/a
17	chr2:110962687-110962737	GM12891	blood:	n/a
18	chr2:110962687-110962737	H1-hESC	embryonic stem cell:	embryo
19	chr2:110962687-110962737	AoSMC	blood vessel:	n/a
20	chr2:110962687-110962737	RPTEC	kidney:	n/a
21	chr2:110962687-110962737	AG09319	gingival:	n/a
22	chr2:110962687-110962737	NT2-D1	testis:	n/a
23	chr2:110962687-110962737	T-47D	breast:	n/a
24	chr2:110962687-110962737	ProgFib	skin:	n/a
25	chr2:110962687-110962737	HEK293	kidney:	embryo
26	chr2:110962687-110962737	NB4	blood:	n/a
27	chr2:110962687-110962737	HNPCEpiC	eye:	n/a
28	chr2:110962687-110962737	HMEC	breast:	n/a
29	chr2:110962687-110962737	MCF-7	breast:	n/a
30	chr2:110962687-110962737	HRCEpiC	kidney:	n/a
31	chr2:110962687-110962737	BE2_C	brain:	n/a
32	chr2:110962687-110962737	HIPEpiC	eye:	n/a
33	chr2:110962687-110962737	HUVEC	blood vessel:	n/a
34	chr2:110962687-110962737	HCF	heart:	n/a
35	chr2:110962687-110962737	AG04450	lung:	fetal
36	chr2:110962687-110962737	HL-60	blood:	n/a
37	chr2:110962687-110962737	LNCaP	prostate:	n/a
38	chr2:110962687-110962737	GM12878	blood:	n/a
39	chr2:110962687-110962737	K562	blood:	n/a
40	chr2:110962687-110962737	NHDF-neo	bronchial:	n/a
41	chr2:110962687-110962737	ovcar-3	ovarian:	n/a
42	chr2:110962687-110962737	HEEpiC	esophagus:	n/a
43	chr2:110962687-110962737	A549	lung:	n/a
44	chr2:110962687-110962737	GM12892	blood:	n/a
45	chr2:110962687-110962737	AG09309	skin:	n/a
46	chr2:110962687-110962737	HCM	heart:	n/a
47	chr2:110962687-110962737	SK-N-SH_RA	brain:	n/a
48	chr2:110962687-110962737	SK-N-SH	brain:	n/a
49	chr2:110962687-110962737	GM19239	blood:	n/a
50	chr2:110962687-110962737	ECC-1	luminal epithelium:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110960357..110966320-chr2:110966517..110974106,19	K562	blood:

No data

Variant related genes	Relation type
NPHP1	TF binding region
NPHP1	CpG island
ENSG00000175701	Chromatin interaction

Extended variants
information (count: 313 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167155	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs10170120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170204	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10177822	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10177824	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10196865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10205807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1033017	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11894410	1.00[EUR][1000 genomes]
rs11898910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11904760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477042	0.87[EUR][1000 genomes]
rs13403558	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13416417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13421450	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17842656	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2271242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56357128	0.87[EUR][1000 genomes]
rs61730258	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711385	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714985	1.00[EUR][1000 genomes]
rs6744318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73954633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954642	1.00[EUR][1000 genomes]
rs9326627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326628	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807986	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv2751812	chr2:110457214-110980346	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1011653	chr2:110461521-110978224	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv874782	chr2:110463288-111334482	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv1013901	chr2:110501500-110983669	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1003103	chr2:110504334-111084885	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv874787	chr2:110524250-111334482	Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	esv2757824	chr2:110693356-111123649	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
12	esv2759082	chr2:110693356-111123649	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
13	nsv532271	chr2:110694195-111209736	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
14	nsv582654	chr2:110695564-110983320	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
15	nsv917407	chr2:110704031-110983669	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
16	nsv918119	chr2:110704031-111084885	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
17	nsv998768	chr2:110704032-110973315	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
18	nsv1010477	chr2:110704032-110983669	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
19	nsv1003206	chr2:110704032-111066273	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv1010763	chr2:110704032-111084885	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
21	esv2763637	chr2:110704032-111169128	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
22	nsv1010870	chr2:110704032-111400650	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
23	nsv874788	chr2:110706146-111334482	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
24	nsv1011659	chr2:110710762-110983669	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
25	nsv998349	chr2:110710762-111084885	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
26	nsv1005578	chr2:110717078-111084885	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
27	nsv874790	chr2:110727715-111334482	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
28	esv2830158	chr2:110727715-111419426	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
29	nsv994984	chr2:110732632-110964737	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
30	nsv869158	chr2:110732632-111334482	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
31	nsv915752	chr2:110732649-110964775	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
32	nsv874793	chr2:110732676-111334482	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
33	nsv1008374	chr2:110768230-111084885	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
34	nsv874794	chr2:110772440-111334482	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
35	nsv917668	chr2:110783035-110981045	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
36	nsv918099	chr2:110783035-111369031	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
37	nsv529084	chr2:110783036-110964878	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	10 gene(s)	inside rSNPs	diseases
38	nsv1067566	chr2:110783236-110964737	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	10 gene(s)	inside rSNPs	diseases
39	nsv491906	chr2:110783236-110964737	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	10 gene(s)	inside rSNPs	diseases
40	nsv529799	chr2:110783236-111128847	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
41	nsv917042	chr2:110783251-110964775	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	10 gene(s)	inside rSNPs	diseases
42	nsv497911	chr2:110783251-111079065	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
43	nsv533709	chr2:110783258-111334482	Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
44	nsv874795	chr2:110790106-111334482	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
45	nsv582656	chr2:110796252-110983050	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
46	nsv874796	chr2:110796252-111334482	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
47	nsv874798	chr2:110804164-111139869	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
48	nsv874797	chr2:110804164-111334482	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
49	nsv917939	chr2:110804382-110991361	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
50	nsv915581	chr2:110807572-111334482	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3789726	LINC00116	cis	Adipose Subcutaneous	GTEx
rs3789726	LINC00116	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110961600-110963000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:110961600-110963000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:110961600-110963200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:110961800-110963000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr2:110961800-110963000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:110961800-110963000	Active TSS	Fetal Muscle Trunk	muscle
7	chr2:110961800-110963200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:110961800-110963200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:110961800-110963200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:110961800-110963200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:110961800-110963200	ZNF genes & repeats	Fetal Brain Male	brain
12	chr2:110961800-110963200	Flanking Active TSS	Dnd41	blood
13	chr2:110961800-110963600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:110962000-110962800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:110962000-110962800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:110962000-110962800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr2:110962000-110962800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr2:110962000-110963000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:110962000-110963000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:110962000-110963000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:110962000-110963000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:110962000-110963000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:110962000-110963000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:110962000-110963000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:110962000-110963000	Active TSS	Fetal Brain Female	brain
26	chr2:110962000-110963000	Active TSS	Left Ventricle	heart
27	chr2:110962000-110963000	Active TSS	Lung	lung
28	chr2:110962000-110963000	Active TSS	NHDF-Ad	bronchial
29	chr2:110962000-110963200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:110962000-110963200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr2:110962000-110963200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr2:110962000-110963200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr2:110962000-110963200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:110962000-110963200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:110962000-110963200	Flanking Active TSS	Liver	Liver
36	chr2:110962200-110962800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:110962200-110962800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:110962200-110962800	Active TSS	Colon Smooth Muscle	Colon
39	chr2:110962200-110962800	Active TSS	Fetal Heart	heart
40	chr2:110962200-110962800	Active TSS	Small Intestine	intestine
41	chr2:110962200-110962800	Bivalent/Poised TSS	HepG2	liver
42	chr2:110962200-110963000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr2:110962200-110963000	Active TSS	Aorta	Aorta
44	chr2:110962200-110963000	Active TSS	Brain Angular Gyrus	brain
45	chr2:110962200-110963000	Active TSS	Brain Anterior Caudate	brain
46	chr2:110962200-110963000	Active TSS	Fetal Kidney	kidney
47	chr2:110962200-110963000	Active TSS	Fetal Stomach	stomach
48	chr2:110962200-110963000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr2:110962200-110963000	Active TSS	Right Ventricle	heart
50	chr2:110962200-110963000	Active TSS	Skeletal Muscle Male	skeletal muscle

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