Variant report

Variant	rs7587498
Chromosome Location	chr2:126442814-126442815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
2	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1344626	0.81[ASN][1000 genomes]
rs1529380	0.81[ASN][1000 genomes]
rs1863682	0.81[ASN][1000 genomes]
rs2052813	0.81[ASN][1000 genomes]
rs2052814	0.81[ASN][1000 genomes]
rs2052817	0.81[ASN][1000 genomes]
rs2114601	0.81[ASN][1000 genomes]
rs3943891	0.81[ASN][1000 genomes]
rs4849035	0.81[ASN][1000 genomes]
rs62158251	0.81[ASN][1000 genomes]
rs7587664	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999840	chr2:125902993-126683646	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1012762	chr2:125902993-126755660	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535915	chr2:125902993-126755660	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1001555	chr2:125904415-126630781	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv535916	chr2:125904415-126630781	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998839	chr2:126102160-126641282	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv533313	chr2:126129440-126630783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1000070	chr2:126138320-126915275	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2760605	chr2:126238109-126480968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv459219	chr2:126260742-126503735	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv582885	chr2:126260742-126503735	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv870190	chr2:126267468-126699123	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv1795898	chr2:126413866-126482366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1807223	chr2:126413866-126482366	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1817572	chr2:126413866-126482366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1822113	chr2:126413866-126482366	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv1833092	chr2:126413866-126482366	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv1833541	chr2:126413866-126482366	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv1842901	chr2:126413866-126482366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv1843340	chr2:126413866-126482366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1817982	chr2:126425287-126468675	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1823757	chr2:126425287-126468675	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv1851475	chr2:126425287-126468675	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv2904	chr2:126428107-126467337	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv582992	chr2:126429993-126450893	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv582993	chr2:126429993-126451399	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv582994	chr2:126429993-126451762	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv224	chr2:126439664-126461757	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv10140	chr2:126440606-126452421	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1837340	chr2:126440697-126451399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv582995	chr2:126440697-126451399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1838865	chr2:126440697-126451762	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1846658	chr2:126440697-126451762	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv3457082	chr2:126441282-126453780	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1826967	chr2:126441479-126451466	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1815832	chr2:126441479-126456840	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
37	esv3508791	chr2:126441695-126452274	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv3508796	chr2:126442132-126452880	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv3508801	chr2:126442183-126452376	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv3457084	chr2:126442307-126453055	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1006513	chr2:126442545-126453351	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv2505990	chr2:126442552-126452401	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv3508795	chr2:126442582-126452830	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv436290	chr2:126442624-126452405	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv2649456	chr2:126442726-126453252	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv3457085	chr2:126442762-126452168	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126441400-126443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126441600-126443200	Enhancers	GM12878-XiMat	blood
3	chr2:126442800-126443200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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