Variant report

Variant	rs7592232
Chromosome Location	chr2:149291688-149291689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149291312..149293367-chr2:149296532..149298461,2	K562	blood:
2	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12622366	0.88[CHB][hapmap]
rs12691802	0.88[CHB][hapmap]
rs13014625	0.88[CHB][hapmap]
rs13014829	0.88[CHB][hapmap]
rs1550858	0.96[ASN][1000 genomes]
rs16828718	0.87[GIH][hapmap]
rs16828726	0.82[GIH][hapmap]
rs4972382	0.88[CHB][hapmap]
rs4972385	0.88[CHB][hapmap]
rs6708007	0.88[CHB][hapmap]
rs73005293	0.91[ASN][1000 genomes]
rs7592968	0.87[GIH][hapmap]
rs9287418	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription 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	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS 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	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:149286200-149295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:149288800-149296800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:149289600-149291800	Weak transcription	Right Atrium	heart
6	chr2:149290000-149291800	Weak transcription	Left Ventricle	heart
7	chr2:149290000-149293000	Weak transcription	Right Ventricle	heart
8	chr2:149290200-149292800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:149290400-149292400	Enhancers	Fetal Thymus	thymus
10	chr2:149290400-149292600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:149290600-149292800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:149291000-149292400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:149291000-149292400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:149291000-149292600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:149291000-149292600	Enhancers	K562	blood
16	chr2:149291000-149293000	Enhancers	Fetal Heart	heart
17	chr2:149291000-149293200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:149291400-149291800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:149291400-149293000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:149291600-149292000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:149291600-149292000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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