Variant report

Variant	rs1890040
Chromosome Location	chr1:146714255-146714256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:146713862-146714412	GM12878	blood:	n/a	n/a
2	MAX	chr1:146713833-146715298	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:146713962-146715070	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:146713941-146715310	GM19099	blood:	n/a	n/a
5	ZNF263	chr1:146713889-146715395	HEK293-T-REx	kidney:	n/a	n/a
6	EGR1	chr1:146714052-146714811	K562	blood:	n/a	chr1:146714280-146714290 chr1:146714281-146714291 chr1:146714280-146714293 chr1:146714539-146714549 chr1:146714279-146714293 chr1:146714280-146714293 chr1:146714280-146714293 chr1:146714541-146714554 chr1:146714277-146714291 chr1:146714281-146714290 chr1:146714280-146714293
7	CTCF	chr1:146714160-146714310	HL-60	blood:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
8	CTCF	chr1:146714140-146714290	HCFaa	heart:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
9	POLR2A	chr1:146713919-146715429	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr1:146713969-146714366	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:146713993-146714901	HUVEC	blood vessel:	n/a	n/a
12	SMARCB1	chr1:146713969-146715384	Hela-S3	cervix:	n/a	n/a
13	HMGN3	chr1:146714022-146715339	K562	blood:	n/a	n/a
14	CTCF	chr1:146714160-146714310	HRE	kidney:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
15	TCF7L2	chr1:146713840-146715726	Hela-S3	cervix:	n/a	chr1:146713924-146713938
16	CTCF	chr1:146714096-146714397	K562	blood:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
17	EP300	chr1:146713938-146715195	GM12878	blood:	n/a	chr1:146714608-146714624 chr1:146714539-146714555
18	SMC3	chr1:146713895-146715313	Hela-S3	cervix:	n/a	chr1:146714765-146714779 chr1:146714231-146714245 chr1:146714765-146714775
19	BRCA1	chr1:146713954-146715451	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:146713928-146715209	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr1:146713890-146715158	K562	blood:	n/a	n/a
22	SP4	chr1:146714044-146714320	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:146713991-146715011	GM12878	blood:	n/a	n/a
24	RAD21	chr1:146713811-146715151	HCT-116	colon:	n/a	chr1:146714732-146714745 chr1:146714765-146714779 chr1:146714774-146714787 chr1:146714761-146714780 chr1:146714763-146714775
25	POLR2A	chr1:146713819-146715333	GM12892	blood:	n/a	n/a
26	RCOR1	chr1:146713788-146715768	Hela-S3	cervix:	n/a	n/a
27	REST	chr1:146714057-146714458	K562	blood:	n/a	n/a
28	BACH1	chr1:146713791-146714916	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT3	chr1:146714049-146714342	MCF10A-Er-Src	breast:	n/a	n/a
30	SP1	chr1:146713963-146714423	GM12878	blood:	n/a	chr1:146714279-146714288
31	YY1	chr1:146713992-146715006	H1-hESC	embryonic stem cell:	n/a	chr1:146714543-146714557
32	POLR2A	chr1:146714008-146714899	Gliobla	brain:	n/a	n/a
33	ZBTB7A	chr1:146714107-146715383	ECC-1	luminal epithelium:	n/a	chr1:146714764-146714773
34	CCNT2	chr1:146714008-146715304	K562	blood:	n/a	chr1:146715176-146715185
35	CTCF	chr1:146714140-146714290	GM12865	blood:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
36	ZNF384	chr1:146713997-146714924	K562	blood:	n/a	n/a
37	NRF1	chr1:146714081-146715246	GM12878	blood:	n/a	chr1:146714539-146714548
38	POLR2A	chr1:146713959-146715231	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:146713936-146714869	ECC-1	luminal epithelium:	n/a	n/a
40	EP300	chr1:146713918-146715370	GM12878	blood:	n/a	chr1:146714608-146714624 chr1:146715308-146715318 chr1:146714539-146714555
41	CTCF	chr1:146714160-146714310	GM12873	blood:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
42	GATA1	chr1:146713626-146714801	PBDE	blood:	n/a	n/a
43	POLR2A	chr1:146713971-146714946	MCF-7	breast:	n/a	n/a
44	USF1	chr1:146714059-146714402	A549	lung:	n/a	n/a
45	CHD2	chr1:146714101-146714829	HepG2	liver:	n/a	n/a
46	ETS1	chr1:146713965-146714982	K562	blood:	n/a	n/a
47	KAP1	chr1:146713817-146715899	HEK293	kidney:	n/a	n/a
48	SIN3AK20	chr1:146713971-146714444	SK-N-SH	brain:	n/a	n/a
49	HEY1	chr1:146713887-146714948	HepG2	liver:	n/a	chr1:146714541-146714556 chr1:146714552-146714567
50	CTCF	chr1:146714103-146714513	Kidney_OC	kidney:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146714232-146714282	H1-hESC	embryonic stem cell:	embryo
2	chr1:146714230-146714280	NH-A	brain:	n/a
3	chr1:146714208-146714258	GM19239	blood:	n/a
4	chr1:146714230-146714280	RPTEC	kidney:	n/a
5	chr1:146714208-146714258	HEEpiC	esophagus:	n/a
6	chr1:146714232-146714282	HEEpiC	esophagus:	n/a
7	chr1:146714208-146714258	H1-hESC	embryonic stem cell:	embryo
8	chr1:146714208-146714258	AG04449	skin:	fetal
9	chr1:146714232-146714282	AG09319	gingival:	n/a
10	chr1:146714208-146714258	HRPEpiC	eye:	n/a
11	chr1:146714232-146714282	BE2_C	brain:	n/a
12	chr1:146714230-146714280	GM12891	blood:	n/a
13	chr1:146714208-146714258	PFSK-1	brain:	n/a
14	chr1:146714208-146714258	SKMC	muscle:	n/a
15	chr1:146714208-146714258	ovcar-3	ovarian:	n/a
16	chr1:146714208-146714258	AoSMC	blood vessel:	n/a
17	chr1:146714208-146714258	HCM	heart:	n/a
18	chr1:146714232-146714282	IMR90	lung:	fetal
19	chr1:146714232-146714282	AoSMC	blood vessel:	n/a
20	chr1:146714232-146714282	MCF-7	breast:	n/a
21	chr1:146714230-146714280	PFSK-1	brain:	n/a
22	chr1:146714208-146714258	K562	blood:	n/a
23	chr1:146714232-146714282	GM19239	blood:	n/a
24	chr1:146714230-146714280	AG04449	skin:	fetal
25	chr1:146714208-146714258	MCF10A-Er-Src	breast:	n/a
26	chr1:146714208-146714258	AG09309	skin:	n/a
27	chr1:146714232-146714282	RPTEC	kidney:	n/a
28	chr1:146714232-146714282	HepG2	liver:	n/a
29	chr1:146714208-146714258	HCT-116	colon:	n/a
30	chr1:146714208-146714258	NHDF-neo	bronchial:	n/a
31	chr1:146714232-146714282	GM06990	blood:	n/a
32	chr1:146714232-146714282	HIPEpiC	eye:	n/a
33	chr1:146714208-146714258	SK-N-SH	brain:	n/a
34	chr1:146714230-146714280	HCT-116	colon:	n/a
35	chr1:146714208-146714258	NT2-D1	testis:	n/a
36	chr1:146714232-146714282	A549	lung:	n/a
37	chr1:146714232-146714282	LNCaP	prostate:	n/a
38	chr1:146714230-146714280	PANC-1	pancreas:	n/a
39	chr1:146714232-146714282	HCF	heart:	n/a
40	chr1:146714232-146714282	MCF10A-Er-Src	breast:	n/a
41	chr1:146714208-146714258	RPTEC	kidney:	n/a
42	chr1:146714232-146714282	PANC-1	pancreas:	n/a
43	chr1:146714230-146714280	AG04450	lung:	fetal
44	chr1:146714230-146714280	K562	blood:	n/a
45	chr1:146714230-146714280	MCF-7	breast:	n/a
46	chr1:146714230-146714280	Hepatocyte	liver:	n/a
47	chr1:146714230-146714280	HIPEpiC	eye:	n/a
48	chr1:146714230-146714280	ovcar-3	ovarian:	n/a
49	chr1:146714230-146714280	ECC-1	luminal epithelium:	n/a
50	chr1:146714208-146714258	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:
2	chr1:146712756..146714985-chr9:19378272..19380601,2	MCF-7	breast:
3	chr1:146632272..146634531-chr1:146713179..146715784,3	MCF-7	breast:
4	chr1:146649315..146651856-chr1:146712649..146716301,4	MCF-7	breast:
5	chr1:146713799..146714746-chr7:86781364..86782270,2	Hela-S3	cervix:
6	chr1:146554717..146557790-chr1:146713275..146715735,7	MCF-7	breast:
7	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
8	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
9	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
10	chr1:146696095..146697262-chr1:146714138..146714926,6	MCF-7	breast:
11	chr1:146640645..146647502-chr1:146711418..146719354,29	K562	blood:
12	chr1:146643464..146645140-chr1:146713602..146715704,127	MCF-7	breast:
13	chr1:146643751..146644645-chr1:146713680..146714742,5	MCF-7	breast:
14	chr1:146642817..146644911-chr1:146712966..146715242,14	K562	blood:
15	chr1:146554504..146557399-chr1:146713775..146716499,4	MCF-7	breast:
16	chr1:28975066..28975586-chr1:146713775..146714464,2	NB4	blood:
17	chr1:146643597..146644883-chr1:146713838..146714581,3	MCF-7	breast:
18	chr1:146713889..146714482-chr1:207494791..207495360,2	Hela-S3	cervix:
19	chr1:146696837..146698411-chr1:146712690..146714325,2	K562	blood:
20	chr1:146643493..146644893-chr1:146713471..146715076,53	MCF-7	breast:
21	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:

Variant related genes	Relation type
CHD1L	TF binding region
CHD1L	CpG island
ENSG00000131781	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000271721	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000180867	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000230832	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000201142	Chromatin interaction
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10736837	0.86[EUR][1000 genomes]
rs10751409	0.83[EUR][1000 genomes]
rs10751410	0.83[EUR][1000 genomes]
rs10793657	0.86[EUR][1000 genomes]
rs10793658	0.86[EUR][1000 genomes]
rs10793661	0.86[EUR][1000 genomes]
rs10900332	0.83[EUR][1000 genomes]
rs10900333	0.86[EUR][1000 genomes]
rs10900336	0.84[EUR][1000 genomes]
rs11239970	0.80[EUR][1000 genomes]
rs11239971	0.84[EUR][1000 genomes]
rs12046626	0.83[EUR][1000 genomes]
rs12144722	0.83[ASN][1000 genomes]
rs1372820	0.84[ASN][1000 genomes]
rs1932977	0.84[ASN][1000 genomes]
rs1932980	0.82[EUR][1000 genomes]
rs1932981	0.84[EUR][1000 genomes]
rs2210954	0.83[EUR][1000 genomes]
rs3737849	0.86[EUR][1000 genomes]
rs3737850	0.86[EUR][1000 genomes]
rs3737853	0.86[EUR][1000 genomes]
rs3737854	0.86[EUR][1000 genomes]
rs4264042	0.84[EUR][1000 genomes]
rs4284292	0.86[EUR][1000 genomes]
rs4326679	0.84[EUR][1000 genomes]
rs4385773	0.84[EUR][1000 genomes]
rs4518968	0.84[EUR][1000 genomes]
rs6537	0.86[EUR][1000 genomes]
rs6593745	0.84[ASN][1000 genomes]
rs6593756	0.86[EUR][1000 genomes]
rs6593758	0.83[EUR][1000 genomes]
rs6593760	0.84[EUR][1000 genomes]
rs6593762	0.83[EUR][1000 genomes]
rs6593763	0.84[EUR][1000 genomes]
rs6593764	0.84[EUR][1000 genomes]
rs6593765	0.84[EUR][1000 genomes]
rs6593767	0.84[EUR][1000 genomes]
rs6659630	0.86[EUR][1000 genomes]
rs6660985	0.84[EUR][1000 genomes]
rs6665597	0.86[EUR][1000 genomes]
rs6674987	0.84[EUR][1000 genomes]
rs6677762	0.83[EUR][1000 genomes]
rs6692355	0.84[EUR][1000 genomes]
rs6692453	0.84[EUR][1000 genomes]
rs6697022	0.86[EUR][1000 genomes]
rs718369	0.81[ASN][1000 genomes]
rs7517324	0.86[EUR][1000 genomes]
rs7519022	0.84[EUR][1000 genomes]
rs7523021	0.84[ASN][1000 genomes]
rs7526996	0.86[EUR][1000 genomes]
rs7527894	0.84[ASN][1000 genomes]
rs7528091	0.84[EUR][1000 genomes]
rs7528700	0.86[EUR][1000 genomes]
rs7544598	0.81[EUR][1000 genomes]
rs7555817	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS 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 target site	110 gene(s)	inside rSNPs	diseases
6	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
7	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic 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 target site	110 gene(s)	inside rSNPs	diseases
13	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv872257	chr1:146643555-146724923	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
22	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
26	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
27	nsv872259	chr1:146688941-146724923	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	esv3325681	chr1:146713353-146715901	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1890040	RP11-337C18.8	cis	Thyroid	GTEx
rs1890040	CHD1L	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146713600-146714400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:146713600-146714400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:146713800-146714400	Active TSS	Brain Germinal Matrix	brain
4	chr1:146713800-146715000	Active TSS	Fetal Brain Female	brain
5	chr1:146713800-146715400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:146713800-146715400	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:146713800-146715600	Active TSS	Colonic Mucosa	Colon
8	chr1:146713800-146715600	Active TSS	Fetal Muscle Trunk	muscle
9	chr1:146713800-146715600	Active TSS	Psoas Muscle	Psoas
10	chr1:146713800-146715800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:146713800-146715800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:146713800-146715800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:146713800-146715800	Active TSS	HSMMtube	muscle
14	chr1:146713800-146716000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:146713800-146716000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:146713800-146716000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:146713800-146716000	Active TSS	Right Ventricle	heart
18	chr1:146714000-146714400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:146714000-146714400	Enhancers	Fetal Heart	heart
20	chr1:146714000-146715000	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr1:146714000-146715200	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:146714000-146715400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:146714000-146715400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:146714000-146715400	Active TSS	Brain Angular Gyrus	brain
25	chr1:146714000-146715400	Active TSS	Brain Substantia Nigra	brain
26	chr1:146714000-146715400	Active TSS	Left Ventricle	heart
27	chr1:146714000-146715400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr1:146714000-146715600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:146714000-146715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:146714000-146715600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:146714000-146715600	Active TSS	Brain Anterior Caudate	brain
32	chr1:146714000-146715600	Active TSS	Ovary	ovary
33	chr1:146714000-146715800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:146714000-146715800	Active TSS	Aorta	Aorta
35	chr1:146714000-146715800	Active TSS	Brain Hippocampus Middle	brain
36	chr1:146714000-146715800	Active TSS	Fetal Thymus	thymus
37	chr1:146714000-146715800	Active TSS	A549	lung
38	chr1:146714000-146716000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:146714000-146716000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:146714000-146716000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:146714000-146716200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:146714000-146716200	Active TSS	NHDF-Ad	bronchial
43	chr1:146714000-146716400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:146714200-146714400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:146714200-146714400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:146714200-146714600	Active TSS	Primary B cells from cord blood	blood
47	chr1:146714200-146714800	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr1:146714200-146714800	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr1:146714200-146714800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:146714200-146714800	Active TSS	HepG2	liver

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