Variant report

Variant	rs7570320
Chromosome Location	chr2:234075691-234075692
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	POLR2A	chr2:234075496-234076443	GM12878	blood:	n/a	n/a
2	STAT5A	chr2:234075539-234076537	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
INPP5D	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10754947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694926	0.82[AMR][1000 genomes]
rs12694928	0.84[AMR][1000 genomes]
rs13388142	0.82[AMR][1000 genomes]
rs28429042	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28459768	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28478933	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28534487	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28539971	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28576692	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28605534	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28609111	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28615641	1.00[ASN][1000 genomes]
rs28631646	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28655385	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28669088	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35349669	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35877172	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4585024	1.00[ASN][1000 genomes]
rs55801407	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62192874	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431237	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431239	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737719	1.00[ASN][1000 genomes]
rs67498812	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559212	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568389	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577360	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581787	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597516	0.84[AMR][1000 genomes]
rs7597763	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607736	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607812	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:234053400-234077600	Weak transcription	Left Ventricle	heart
3	chr2:234053600-234076800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:234053600-234076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:234053600-234077000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
8	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
11	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
13	chr2:234054600-234076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:234056600-234078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:234056800-234077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:234057200-234077000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:234060000-234087800	Weak transcription	NHEK	skin
20	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
24	chr2:234067800-234078400	Weak transcription	Right Ventricle	heart
25	chr2:234069800-234083400	Strong transcription	Thymus	Thymus
26	chr2:234070200-234076000	Strong transcription	Dnd41	blood
27	chr2:234070600-234077000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:234071400-234079200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:234072400-234077000	Weak transcription	Liver	Liver
30	chr2:234073400-234075800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr2:234073400-234075800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:234074200-234111200	Weak transcription	Brain Substantia Nigra	brain
33	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:234074800-234077000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:234074800-234101000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:234075000-234077000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:234075000-234078000	Weak transcription	Esophagus	oesophagus
38	chr2:234075000-234100000	Weak transcription	HUVEC	blood vessel
39	chr2:234075200-234075800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:234075200-234075800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:234075200-234076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:234075200-234076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:234075200-234077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:234075200-234077000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:234075200-234077000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:234075200-234077000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:234075200-234077000	Weak transcription	Lung	lung
48	chr2:234075200-234078200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:234075200-234078400	Weak transcription	Gastric	stomach
50	chr2:234075200-234080400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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