Variant report

Variant	rs2287234
Chromosome Location	chr2:51258887-51258888
allele	A/C
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	REST	chr2:51258623-51259810	H1-neurons	neurons:	n/a	chr2:51259441-51259454 chr2:51259434-51259454 chr2:51259393-51259402 chr2:51259524-51259537 chr2:51259434-51259454 chr2:51258742-51258762 chr2:51259434-51259448 chr2:51259435-51259453 chr2:51259389-51259399 chr2:51259521-51259534 chr2:51259440-51259449 chr2:51259434-51259454
2	POLR2A	chr2:51258603-51260316	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr2:51258829-51260380	H1-neurons	neurons:	n/a	n/a
4	REST	chr2:51258861-51260177	HL-60	blood:	n/a	chr2:51259441-51259454 chr2:51259434-51259454 chr2:51259393-51259402 chr2:51259524-51259537 chr2:51259434-51259454 chr2:51259434-51259448 chr2:51259435-51259453 chr2:51259389-51259399 chr2:51259521-51259534 chr2:51259440-51259449 chr2:51259434-51259454
5	POLR2A	chr2:51258649-51260298	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr2:51258821-51259866	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr2:51258822-51259793	PFSK-1	brain:	n/a	chr2:51259441-51259454 chr2:51259434-51259454 chr2:51259393-51259402 chr2:51259524-51259537 chr2:51259434-51259454 chr2:51259434-51259448 chr2:51259435-51259453 chr2:51259389-51259399 chr2:51259521-51259534 chr2:51259440-51259449 chr2:51259434-51259454
8	REST	chr2:51257890-51260488	H1-neurons	neurons:	n/a	chr2:51259441-51259454 chr2:51259434-51259454 chr2:51259393-51259402 chr2:51259524-51259537 chr2:51259434-51259454 chr2:51258742-51258762 chr2:51259434-51259448 chr2:51259435-51259453 chr2:51259389-51259399 chr2:51259521-51259534 chr2:51259440-51259449 chr2:51259434-51259454

Variant related genes	Relation type
ENSG00000231918	TF binding region
NRXN1	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10171887	0.85[CEU][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs10173781	0.96[EUR][1000 genomes]
rs10173817	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10174918	0.85[CEU][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs10174990	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs10180695	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10183509	0.85[EUR][1000 genomes]
rs10195149	0.85[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs10195460	0.81[CEU][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs10199610	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12474437	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs12713128	0.94[EUR][1000 genomes]
rs1544689	0.96[EUR][1000 genomes]
rs1995583	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs1995584	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052902	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2193410	0.85[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs2193417	0.86[TSI][hapmap]
rs2216308	0.85[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs2352543	0.81[CEU][hapmap];0.95[EUR][1000 genomes]
rs4971717	0.94[EUR][1000 genomes]
rs4971721	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs6545189	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs6719188	0.93[EUR][1000 genomes]
rs7571079	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs7586490	0.93[EUR][1000 genomes]
rs7591683	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs7601476	0.94[EUR][1000 genomes]
rs7604257	0.96[EUR][1000 genomes]
rs888242	0.85[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001435	chr2:50811382-51396921	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2763321	chr2:50837494-51353386	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv932208	chr2:50847100-51556715	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv949061	chr2:50897511-51336029	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1002086	chr2:50912161-51405061	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv948592	chr2:50927534-51261060	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1008799	chr2:50934561-51464680	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv535698	chr2:50934561-51464680	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv532683	chr2:50937444-51314430	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv581848	chr2:50938959-51345515	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv874046	chr2:50947044-51279394	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv931589	chr2:50962008-51260667	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv532685	chr2:50964848-51400694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933276	chr2:50968453-51314430	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv915824	chr2:50978466-51528474	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv581853	chr2:51013647-51554047	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv999668	chr2:51037103-51314431	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv535700	chr2:51037103-51314431	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv530389	chr2:51037104-51446873	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv932980	chr2:51038374-51314430	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv933852	chr2:51039094-51272266	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1001490	chr2:51046996-51271073	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv535701	chr2:51046996-51271073	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv1007652	chr2:51046996-51304366	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1004335	chr2:51046996-51358191	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv535702	chr2:51046996-51358191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv581859	chr2:51047313-51280517	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv931853	chr2:51066578-51260667	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv997854	chr2:51074517-51271073	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv1002692	chr2:51074517-51304366	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv1014907	chr2:51074517-51532889	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv581862	chr2:51077569-51335858	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv532687	chr2:51083410-51382872	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	esv2830373	chr2:51083410-51426171	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv933819	chr2:51099263-51259201	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
36	nsv933039	chr2:51099263-51402457	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
37	nsv1000086	chr2:51107014-51420538	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
38	nsv874054	chr2:51108133-51451120	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
39	nsv933220	chr2:51129464-51513892	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
40	nsv1014770	chr2:51135645-51324648	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv1006515	chr2:51135645-51358191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	nsv535703	chr2:51135645-51358191	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
43	nsv1005988	chr2:51135645-51500590	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
44	nsv1007188	chr2:51135645-51821787	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
45	nsv535704	chr2:51135645-51821787	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
46	nsv934263	chr2:51139554-51259739	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
47	nsv1005168	chr2:51142848-51702008	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
48	nsv535705	chr2:51142848-51702008	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
49	nsv533262	chr2:51142849-51510961	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
50	nsv932845	chr2:51149561-51462892	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2287234	FOXN2	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51249400-51260400	Active TSS	Brain Angular Gyrus	brain
2	chr2:51256000-51260200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:51256200-51260200	Active TSS	Fetal Brain Female	brain
4	chr2:51256400-51259800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:51257000-51260000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
6	chr2:51257000-51260400	Active TSS	Brain Anterior Caudate	brain
7	chr2:51257000-51260400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:51257400-51259800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr2:51257600-51259000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:51257800-51259000	Active TSS	Brain Hippocampus Middle	brain
11	chr2:51257800-51259800	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr2:51257800-51260600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:51258000-51259200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr2:51258000-51259200	Weak transcription	Osteobl	bone
15	chr2:51258000-51259800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:51258000-51260400	Active TSS	Fetal Brain Male	brain
17	chr2:51258200-51259000	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:51258200-51259600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:51258200-51260600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:51258400-51259000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:51258400-51259200	Active TSS	Right Atrium	heart
22	chr2:51258400-51260200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:51258400-51260600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:51258400-51260600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:51258600-51259000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr2:51258600-51259000	Active TSS	Fetal Intestine Small	intestine
27	chr2:51258600-51259000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
28	chr2:51258600-51259400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr2:51258600-51259600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:51258600-51260000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:51258600-51260000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:51258600-51260000	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr2:51258600-51260400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:51258600-51260600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr2:51258800-51259000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:51258800-51259000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr2:51258800-51259000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr2:51258800-51259200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:51258800-51259200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr2:51258800-51259800	Active TSS	Fetal Kidney	kidney
41	chr2:51258800-51260000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:51258800-51260000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:51258800-51260200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:51258800-51260200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:51258800-51260200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:51258800-51260600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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