Variant report

Variant	rs829634
Chromosome Location	chr2:30735763-30735764
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	chr2:30453272..30455025-chr2:30735070..30737153,2	K562	blood:
2	chr2:30725140..30726941-chr2:30735622..30737355,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10167083	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10175399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10183928	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12052260	0.82[YRI][hapmap]
rs12053428	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs12468064	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252624	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1252625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252651	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252654	1.00[JPT][hapmap]
rs1525062	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1869423	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1869424	0.93[CEU][hapmap]
rs1975555	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2121600	0.86[CEU][hapmap]
rs2123753	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2167969	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2177698	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593442	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593474	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs2602767	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2602808	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2609917	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2609945	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2692035	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4952147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6731031	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6740440	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6749074	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7583211	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs7591110	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs7592355	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829563	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs829564	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829565	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829574	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs829578	0.89[EUR][1000 genomes]
rs829582	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829583	0.85[EUR][1000 genomes]
rs829618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829619	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829620	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829622	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829630	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829631	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829632	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829641	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs829642	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829646	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829653	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829654	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829655	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829659	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829661	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829662	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829663	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829664	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs829665	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs829670	0.83[EUR][1000 genomes]
rs829671	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829672	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829673	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829675	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829680	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829681	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829682	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs829684	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829695	0.85[JPT][hapmap]
rs829696	0.85[JPT][hapmap]
rs829699	0.85[JPT][hapmap]
rs844194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs860486	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs860487	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs866680	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs9309680	0.93[EUR][1000 genomes];0.92[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:79 , 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	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
5	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
6	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
8	chr2:30729000-30737600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:30729800-30736800	Weak transcription	Liver	Liver
12	chr2:30732000-30738400	Enhancers	K562	blood
13	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
14	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:30733400-30737400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:30733400-30737800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:30733600-30737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:30733800-30737800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:30734000-30735800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:30734000-30738200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:30734000-30739000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:30734400-30735800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:30734600-30735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:30734600-30737200	Weak transcription	NH-A	brain
26	chr2:30734800-30736400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:30734800-30737000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:30734800-30737000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30734800-30737000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:30734800-30737000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:30734800-30737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:30734800-30737000	Weak transcription	Fetal Kidney	kidney
33	chr2:30734800-30737000	Weak transcription	Fetal Stomach	stomach
34	chr2:30734800-30737000	Weak transcription	NHDF-Ad	bronchial
35	chr2:30734800-30737000	Weak transcription	NHLF	lung
36	chr2:30734800-30737200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:30734800-30737200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:30734800-30737200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:30734800-30737400	Weak transcription	HSMM	muscle
40	chr2:30734800-30739200	Weak transcription	Fetal Intestine Small	intestine
41	chr2:30734800-30741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:30734800-30742200	Weak transcription	Gastric	stomach
43	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:30735000-30736400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:30735000-30736400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:30735000-30736800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:30735000-30737000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:30735000-30737200	Weak transcription	Osteobl	bone
49	chr2:30735000-30737800	Weak transcription	Right Ventricle	heart
50	chr2:30735000-30741400	Weak transcription	Primary T cells from cord blood	blood

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