Variant report

Variant	rs2280506
Chromosome Location	chr2:73869666-73869667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:73869519-73870096	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:73869459-73870306	HepG2	liver:	n/a	n/a
3	FOSL2	chr2:73869269-73870339	HepG2	liver:	n/a	n/a
4	FOXA2	chr2:73869546-73870382	HepG2	liver:	n/a	n/a
5	SP1	chr2:73869313-73870328	HepG2	liver:	n/a	n/a
6	MAX	chr2:73869553-73870202	HepG2	liver:	n/a	n/a
7	CTCF	chr2:73869654-73869667	HepG2	liver:	n/a	n/a
8	JUND	chr2:73869404-73869776	HepG2	liver:	n/a	n/a
9	CTCF	chr2:73869640-73869790	HepG2	liver:	n/a	n/a
10	MYBL2	chr2:73869303-73870321	HepG2	liver:	n/a	n/a
11	MXI1	chr2:73869517-73870246	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:73869355-73869790	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:73869381-73870259	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:73869299-73870205	HepG2	liver:	n/a	n/a
15	MBD4	chr2:73869415-73870213	HepG2	liver:	n/a	n/a
16	RXRA	chr2:73869361-73870351	HepG2	liver:	n/a	chr2:73869666-73869686
17	CTCF	chr2:73869520-73869670	RPTEC	kidney:	n/a	n/a
18	MBD4	chr2:73869461-73870194	HepG2	liver:	n/a	n/a
19	HEY1	chr2:73869257-73870291	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:73869511-73870290	HepG2	liver:	n/a	n/a
21	NFIC	chr2:73869458-73870216	HepG2	liver:	n/a	chr2:73869883-73869900
22	MYBL2	chr2:73868990-73870320	HepG2	liver:	n/a	n/a
23	FOXA1	chr2:73869463-73870323	HepG2	liver:	n/a	n/a
24	TEAD4	chr2:73869262-73870386	HepG2	liver:	n/a	n/a
25	RXRA	chr2:73869292-73870550	HepG2	liver:	n/a	chr2:73870398-73870405 chr2:73869666-73869686
26	CEBPB	chr2:73869492-73869669	HepG2	liver:	n/a	n/a
27	HEY1	chr2:73869334-73869797	HepG2	liver:	n/a	n/a
28	JUND	chr2:73869389-73869689	HepG2	liver:	n/a	n/a
29	MAFF	chr2:73869629-73870072	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:73869331-73869728	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:73869472-73869730	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73869666-73869716	ProgFib	skin:	n/a
2	chr2:73869666-73869716	K562	blood:	n/a
3	chr2:73869666-73869716	T-47D	breast:	n/a
4	chr2:73869666-73869716	HEK293	kidney:	embryo
5	chr2:73869666-73869716	Hela-S3	cervix:	n/a
6	chr2:73869666-73869716	PFSK-1	brain:	n/a
7	chr2:73869666-73869716	GM12878	blood:	n/a
8	chr2:73869666-73869716	AG10803	skin:	n/a
9	chr2:73869666-73869716	NHBE	bronchial:	n/a
10	chr2:73869666-73869716	MCF10A-Er-Src	breast:	n/a
11	chr2:73869666-73869716	SKMC	muscle:	n/a
12	chr2:73869666-73869716	Caco-2	colon:	n/a
13	chr2:73869666-73869716	Jurkat	blood:	n/a
14	chr2:73869666-73869716	AG04450	lung:	fetal
15	chr2:73869666-73869716	HUVEC	blood vessel:	n/a
16	chr2:73869666-73869716	NHDF-neo	bronchial:	n/a
17	chr2:73869666-73869716	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:73869666-73869716	SAEC	small airway:	n/a
19	chr2:73869666-73869716	HAEpiC	amniotic membrane:	n/a
20	chr2:73869666-73869716	SK-N-MC	brain:	n/a
21	chr2:73869666-73869716	AoSMC	blood vessel:	n/a
22	chr2:73869666-73869716	HepG2	liver:	n/a
23	chr2:73869666-73869716	HL-60	blood:	n/a
24	chr2:73869666-73869716	AG04449	skin:	fetal
25	chr2:73869666-73869716	ECC-1	luminal epithelium:	n/a
26	chr2:73869666-73869716	PANC-1	pancreas:	n/a
27	chr2:73869666-73869716	SK-N-SH	brain:	n/a
28	chr2:73869666-73869716	AG09309	skin:	n/a
29	chr2:73869666-73869716	BJ	skin:	n/a
30	chr2:73869666-73869716	HCT-116	colon:	n/a
31	chr2:73869666-73869716	IMR90	lung:	fetal
32	chr2:73869666-73869716	HCPEpiC	choroid plexus:	n/a
33	chr2:73869666-73869716	HRE	kidney:	n/a
34	chr2:73869666-73869716	CMK	blood:	n/a
35	chr2:73869666-73869716	GM19239	blood:	n/a
36	chr2:73869666-73869716	HCF	heart:	n/a
37	chr2:73869666-73869716	HCM	heart:	n/a
38	chr2:73869666-73869716	BE2_C	brain:	n/a
39	chr2:73869666-73869716	PrEC	prostate:	n/a
40	chr2:73869666-73869716	HRPEpiC	eye:	n/a
41	chr2:73869666-73869716	U87	brain:	n/a
42	chr2:73869666-73869716	NT2-D1	testis:	n/a
43	chr2:73869666-73869716	AG09319	gingival:	n/a
44	chr2:73869666-73869716	Hepatocyte	liver:	n/a
45	chr2:73869666-73869716	HRCEpiC	kidney:	n/a
46	chr2:73869666-73869716	HEEpiC	esophagus:	n/a
47	chr2:73869666-73869716	RPTEC	kidney:	n/a
48	chr2:73869666-73869716	HIPEpiC	eye:	n/a
49	chr2:73869666-73869716	HNPCEpiC	eye:	n/a
50	chr2:73869666-73869716	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:

No data

Variant related genes	Relation type
NAT8	TF binding region
ALMS1P	TF binding region
ALMS1P	CpG island
NAT8	CpG island
ENSG00000204872	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10192125	0.84[EUR][1000 genomes]
rs10197233	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1091568	0.85[EUR][1000 genomes]
rs11126407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11126408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11126409	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11126411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680056	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683970	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11685372	0.85[EUR][1000 genomes]
rs11689234	0.88[CHB][hapmap]
rs11689767	0.84[EUR][1000 genomes]
rs12151671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246096	0.85[EUR][1000 genomes]
rs1246105	0.84[EUR][1000 genomes]
rs12478871	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12620569	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12713783	0.84[EUR][1000 genomes]
rs12991161	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs13007306	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13007607	0.93[ASN][1000 genomes]
rs13007623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13022145	0.93[ASN][1000 genomes]
rs13027816	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1406105	0.81[ASW][hapmap];0.95[GIH][hapmap]
rs17349804	0.88[EUR][1000 genomes]
rs1879662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2017116	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2037814	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs2280507	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421581	0.91[CEU][hapmap]
rs2421584	0.95[ASN][1000 genomes]
rs2421585	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2421586	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2421587	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421589	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421591	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2421661	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2421662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2421669	0.91[CEU][hapmap]
rs2860579	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28708576	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2947845	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2948441	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2950770	0.83[EUR][1000 genomes]
rs34719281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34874205	0.96[ASN][1000 genomes]
rs3820700	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs3980696	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4241256	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4341964	0.91[ASN][1000 genomes]
rs4436991	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4443018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444558	0.85[ASN][1000 genomes]
rs4511748	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs4627598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637150	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4852309	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4852310	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4852311	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4852936	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852937	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852940	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4852949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4852950	0.93[ASN][1000 genomes]
rs4852951	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4852953	0.83[ASN][1000 genomes]
rs4852954	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4852956	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4852957	0.91[ASN][1000 genomes]
rs4852958	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4852974	0.81[CHB][hapmap]
rs55677218	0.85[EUR][1000 genomes]
rs56054150	0.89[EUR][1000 genomes]
rs56068325	0.88[EUR][1000 genomes]
rs56770679	0.85[EUR][1000 genomes]
rs6546834	0.84[EUR][1000 genomes]
rs6546842	0.86[EUR][1000 genomes]
rs6546858	0.83[YRI][hapmap]
rs6546862	0.96[ASN][1000 genomes]
rs6546863	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6546870	0.91[CEU][hapmap];0.95[GIH][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66931335	0.85[EUR][1000 genomes]
rs6712242	0.97[EUR][1000 genomes]
rs6718799	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6725284	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729347	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6742619	0.80[YRI][hapmap]
rs6744273	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745480	0.84[LWK][hapmap];0.83[YRI][hapmap]
rs6746458	0.84[EUR][1000 genomes]
rs6755948	0.96[ASN][1000 genomes]
rs6759464	0.84[EUR][1000 genomes]
rs67877078	0.88[EUR][1000 genomes]
rs67898050	0.85[EUR][1000 genomes]
rs68154245	0.85[EUR][1000 genomes]
rs72811939	0.86[EUR][1000 genomes]
rs72811975	0.94[ASN][1000 genomes]
rs7570014	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7570683	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs7574268	0.95[ASN][1000 genomes]
rs7579068	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7607989	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608308	0.88[EUR][1000 genomes]
rs7609034	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs780388	0.85[EUR][1000 genomes]
rs780389	0.85[EUR][1000 genomes]
rs780390	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs802113	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874268	chr2:73837751-73907696	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv874269	chr2:73837751-73914019	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874270	chr2:73837751-73916672	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1015036	chr2:73840055-73891004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1006235	chr2:73840055-73896603	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1006033	chr2:73840055-73900856	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2760600	chr2:73846605-73911523	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv874271	chr2:73847024-73907696	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv874272	chr2:73847024-73914019	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv874273	chr2:73847024-73916672	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv874274	chr2:73847024-73922475	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv874275	chr2:73847024-73931971	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
18	nsv979021	chr2:73847283-73871861	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1013586	chr2:73848777-73906844	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1004208	chr2:73849172-73911511	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv2497164	chr2:73850717-73912022	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv1004886	chr2:73852525-73900856	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1011488	chr2:73852525-73909818	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv1000057	chr2:73852525-73911511	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	esv3385057	chr2:73853505-73913858	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv1013142	chr2:73854911-73911511	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv1008311	chr2:73854911-73923089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv829460	chr2:73856145-73913711	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv582209	chr2:73857002-73907696	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv818044	chr2:73859184-73906819	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv515605	chr2:73859184-73916672	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	esv3334222	chr2:73867401-73923991	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2280506	ALMS1P	cis	cerebellum	SCAN
rs2280506	DUSP11	cis	parietal	SCAN
rs2280506	ALMS1P	cis	parietal	SCAN
rs2280506	DUSP11	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73866200-73870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:73866400-73871200	Enhancers	Fetal Lung	lung
3	chr2:73867000-73872200	Enhancers	Ovary	ovary
4	chr2:73867200-73869800	Enhancers	Colonic Mucosa	Colon
5	chr2:73867400-73869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:73867400-73870200	Flanking Active TSS	Liver	Liver
7	chr2:73867400-73870200	Enhancers	Fetal Intestine Large	intestine
8	chr2:73867600-73872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:73867800-73870000	Enhancers	Placenta	Placenta
10	chr2:73868200-73869800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:73868200-73870000	Enhancers	Fetal Intestine Small	intestine
12	chr2:73868400-73869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:73868400-73869800	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:73868400-73871000	Weak transcription	Spleen	Spleen
15	chr2:73868400-73871400	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:73868600-73869800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:73868600-73877000	Weak transcription	Gastric	stomach
18	chr2:73868800-73869800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:73868800-73869800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:73869000-73870200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:73869000-73870200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr2:73869000-73870400	Flanking Active TSS	HepG2	liver
23	chr2:73869200-73869800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:73869400-73870200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:73869600-73870000	Enhancers	Stomach Mucosa	stomach
26	chr2:73869600-73870000	Bivalent Enhancer	HUVEC	blood vessel
27	chr2:73869600-73870200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:73869600-73870200	Enhancers	Fetal Kidney	kidney
29	chr2:73869600-73872000	Enhancers	Lung	lung

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