Variant report

Variant	rs7592355
Chromosome Location	chr2:30793862-30793863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30785460..30787626-chr2:30791866..30794044,2	K562	blood:
2	chr2:30792640..30794473-chr2:30882376..30885137,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865520	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1096109	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11127278	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252640	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1252651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1252654	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1447186	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1447187	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1470533	0.85[EUR][1000 genomes]
rs1470534	0.86[EUR][1000 genomes]
rs1470536	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869429	0.85[EUR][1000 genomes]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593440	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593443	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593448	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593452	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593455	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2593458	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2593459	0.84[EUR][1000 genomes]
rs2593460	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2593461	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2593462	0.86[EUR][1000 genomes]
rs2593464	0.85[EUR][1000 genomes]
rs2593465	0.85[EUR][1000 genomes]
rs2593466	0.86[EUR][1000 genomes]
rs2593474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602780	0.85[EUR][1000 genomes]
rs2602782	0.84[EUR][1000 genomes]
rs2602783	0.86[EUR][1000 genomes]
rs2602784	0.86[EUR][1000 genomes]
rs2602785	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602786	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602789	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602790	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602791	0.86[EUR][1000 genomes]
rs2602792	0.86[EUR][1000 genomes]
rs2602798	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602799	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602806	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602807	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609924	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609925	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609926	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609943	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609945	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2609950	0.82[EUR][1000 genomes]
rs2609952	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2609955	0.86[EUR][1000 genomes]
rs2609956	0.86[EUR][1000 genomes]
rs2609958	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3862977	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs56783904	0.82[AFR][1000 genomes]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6759011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566983	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7572318	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7606200	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs829564	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829617	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829618	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829619	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829620	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829622	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829629	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829637	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829641	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829642	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829646	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829653	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs829654	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829655	0.85[JPT][hapmap]
rs829659	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829660	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829661	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829669	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829671	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829672	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829673	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829675	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829677	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829679	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829680	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs829695	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829696	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs844194	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs860487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs866680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs895662	0.86[EUR][1000 genomes]
rs895665	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30759200-30805600	Weak transcription	K562	blood
7	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
9	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
12	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:30784000-30812200	Weak transcription	NH-A	brain
17	chr2:30784600-30798800	Weak transcription	Liver	Liver
18	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:30785000-30794400	Weak transcription	HMEC	breast
21	chr2:30785200-30806800	Weak transcription	Lung	lung
22	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:30785800-30802800	Weak transcription	Dnd41	blood
25	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:30786600-30794400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
31	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:30786800-30795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:30786800-30797200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:30787800-30795600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:30788200-30794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:30788800-30794000	Weak transcription	Hela-S3	cervix
41	chr2:30789000-30795200	Weak transcription	Small Intestine	intestine
42	chr2:30789000-30797600	Weak transcription	Pancreas	Pancrea
43	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
45	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
47	chr2:30789600-30797600	Weak transcription	NHLF	lung
48	chr2:30789800-30799400	Weak transcription	Adipose Nuclei	Adipose
49	chr2:30789800-30805400	Weak transcription	Ovary	ovary
50	chr2:30790200-30802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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