Variant report

Variant	rs7592623
Chromosome Location	chr2:177681162-177681163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177680489..177682595-chr2:178006256..178007804,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10181816	1.00[CHB][hapmap]
rs10184702	1.00[CHB][hapmap]
rs10197209	1.00[CHB][hapmap]
rs10497573	1.00[CHB][hapmap]
rs10930765	1.00[JPT][hapmap]
rs10930767	1.00[JPT][hapmap]
rs12469347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12616782	1.00[JPT][hapmap]
rs12693105	1.00[CHB][hapmap]
rs13005005	1.00[JPT][hapmap]
rs13032587	0.94[ASN][1000 genomes]
rs13421731	1.00[JPT][hapmap]
rs1355845	1.00[JPT][hapmap]
rs1437725	1.00[CHB][hapmap]
rs1513870	1.00[JPT][hapmap]
rs1513886	1.00[CHB][hapmap]
rs1533303	1.00[CHB][hapmap]
rs1534472	1.00[CHB][hapmap]
rs1545138	1.00[CHB][hapmap]
rs16864479	1.00[CHB][hapmap]
rs16864736	1.00[JPT][hapmap]
rs17628074	1.00[JPT][hapmap]
rs17679370	1.00[JPT][hapmap]
rs1866134	1.00[JPT][hapmap]
rs2037044	0.91[ASN][1000 genomes]
rs4893917	1.00[CHB][hapmap]
rs6707899	1.00[JPT][hapmap]
rs6760271	1.00[JPT][hapmap]
rs7588841	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs840698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs840699	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177677400-177681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:177678200-177683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:177678600-177681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:177678600-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:177679000-177683400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:177679400-177681200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:177679400-177681600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:177679400-177681600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:177679600-177681600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:177679600-177681600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:177679600-177681600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:177679600-177681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:177679600-177682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:177679600-177682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:177679600-177683000	Weak transcription	Fetal Lung	lung
16	chr2:177680000-177689000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:177680200-177681600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:177680200-177689000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:177680600-177681200	Enhancers	Fetal Thymus	thymus
20	chr2:177680800-177682600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:177681000-177681200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:177681000-177681600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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