Variant report

Variant	rs829632
Chromosome Location	chr2:30733617-30733618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
2	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
3	chr2:30733241..30735304-chr2:30736147..30738560,2	MCF-7	breast:
4	chr2:30727663..30729408-chr2:30731919..30733785,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[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];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865520	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1096109	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127278	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252640	0.98[EUR][1000 genomes];1.00[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];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252654	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1447186	0.86[EUR][1000 genomes]
rs1447187	0.86[EUR][1000 genomes]
rs1470533	0.85[EUR][1000 genomes]
rs1470534	0.86[EUR][1000 genomes]
rs1470536	0.87[EUR][1000 genomes]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1662946	0.81[EUR][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];0.88[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];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593440	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	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593455	0.94[EUR][1000 genomes]
rs2593458	0.86[EUR][1000 genomes]
rs2593459	0.84[EUR][1000 genomes]
rs2593460	0.86[EUR][1000 genomes]
rs2593461	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];0.89[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	0.86[EUR][1000 genomes]
rs2602786	0.86[EUR][1000 genomes]
rs2602789	0.84[EUR][1000 genomes]
rs2602790	0.86[EUR][1000 genomes]
rs2602791	0.86[EUR][1000 genomes]
rs2602792	0.86[EUR][1000 genomes]
rs2602798	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602799	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602806	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];0.89[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];0.86[ASN][1000 genomes]
rs2609950	0.82[EUR][1000 genomes]
rs2609952	0.86[EUR][1000 genomes]
rs2609955	0.86[EUR][1000 genomes]
rs2609956	0.86[EUR][1000 genomes]
rs2609958	0.87[EUR][1000 genomes]
rs3862977	0.98[EUR][1000 genomes];1.00[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];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6759011	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566983	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572318	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605994	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7606200	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs829564	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829581	0.83[EUR][1000 genomes]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829617	0.97[EUR][1000 genomes];1.00[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	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829637	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829639	0.83[AMR][1000 genomes];0.83[EUR][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];0.83[AMR][1000 genomes];0.84[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	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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];0.84[EUR][1000 genomes]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[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];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs866680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:30724200-30734000	Weak transcription	Ovary	ovary
4	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:30726200-30734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
8	chr2:30726400-30733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:30726400-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
11	chr2:30727000-30734400	Weak transcription	Psoas Muscle	Psoas
12	chr2:30727800-30734000	Weak transcription	Right Atrium	heart
13	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
15	chr2:30728600-30734400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:30729000-30734000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:30729000-30737600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:30729800-30736800	Weak transcription	Liver	Liver
21	chr2:30731600-30734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:30732000-30738400	Enhancers	K562	blood
23	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
24	chr2:30732200-30735000	Enhancers	HSMMtube	muscle
25	chr2:30732400-30733800	Enhancers	HepG2	liver
26	chr2:30732400-30735400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:30732800-30733800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:30732800-30733800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:30732800-30734800	Enhancers	NHDF-Ad	bronchial
30	chr2:30732800-30735000	Enhancers	Primary T cells from cord blood	blood
31	chr2:30732800-30735400	Enhancers	Small Intestine	intestine
32	chr2:30732800-30735600	Enhancers	Hela-S3	cervix
33	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:30733000-30734200	Weak transcription	Left Ventricle	heart
35	chr2:30733000-30734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:30733000-30735000	Enhancers	Colon Smooth Muscle	Colon
37	chr2:30733000-30735600	Enhancers	Fetal Lung	lung
38	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:30733200-30734600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:30733200-30734800	Enhancers	NHLF	lung
41	chr2:30733400-30733800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:30733400-30734000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:30733400-30734000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:30733400-30734800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:30733400-30734800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:30733400-30734800	Enhancers	Fetal Intestine Small	intestine
47	chr2:30733400-30734800	Enhancers	Fetal Stomach	stomach
48	chr2:30733400-30734800	Enhancers	HSMM	muscle
49	chr2:30733400-30735400	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:30733400-30735400	Enhancers	Fetal Intestine Large	intestine

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