Variant report

Variant	rs2593442
Chromosome Location	chr2:30846262-30846263
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	chr2:30825445..30827676-chr2:30844344..30846401,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865520	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096109	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127278	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252640	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447187	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470533	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470534	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470536	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1662946	0.83[AMR][1000 genomes]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869429	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266377	0.86[EUR][1000 genomes]
rs2593440	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593443	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593448	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593452	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593455	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593458	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593459	0.94[EUR][1000 genomes]
rs2593460	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593461	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593462	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593464	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593465	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593466	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602780	0.95[EUR][1000 genomes]
rs2602782	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602783	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602784	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602785	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602786	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602789	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602790	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602791	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602792	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602798	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602799	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602806	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602807	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609924	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609925	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609926	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609943	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609945	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.92[EUR][1000 genomes]
rs2609952	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609955	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609956	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609958	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862977	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759011	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566983	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572318	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606200	0.92[EUR][1000 genomes];1.00[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];0.83[AMR][1000 genomes]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829581	0.83[AMR][1000 genomes]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829617	0.92[EUR][1000 genomes];0.93[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	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829637	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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]
rs829654	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829655	0.85[JPT][hapmap]
rs829659	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829660	0.90[EUR][1000 genomes];0.93[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];0.91[EUR][1000 genomes];0.93[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];0.83[AMR][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]
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]
rs895662	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895665	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30811600-30863000	Weak transcription	Ovary	ovary
5	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:30832000-30848600	Weak transcription	K562	blood
8	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
9	chr2:30834800-30849400	Weak transcription	Pancreas	Pancrea
10	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
11	chr2:30835800-30848800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
13	chr2:30836000-30848200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:30837600-30863000	Weak transcription	HepG2	liver
17	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:30839400-30849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:30839400-30850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
23	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:30844800-30852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:30845000-30852800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:30845200-30850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
30	chr2:30845400-30846400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:30845400-30849400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
34	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
35	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:30845600-30852800	Weak transcription	Primary T cells from cord blood	blood
37	chr2:30845600-30853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:30845600-30854000	Weak transcription	Fetal Thymus	thymus
39	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
40	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:30845600-30863000	Weak transcription	A549	lung
44	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:30845800-30848000	Weak transcription	Fetal Heart	heart
46	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine

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