Variant report

Variant	rs829637
Chromosome Location	chr2:30737910-30737911
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	chr2:30727521..30729274-chr2:30737533..30740125,3	K562	blood:
2	chr2:30733241..30735304-chr2:30736147..30738560,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10167083	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183928	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865520	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1096109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127278	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12053428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468064	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252651	0.83[EUR][1000 genomes]
rs1447186	0.88[EUR][1000 genomes]
rs1447187	0.88[EUR][1000 genomes]
rs1470533	0.87[EUR][1000 genomes]
rs1470534	0.88[EUR][1000 genomes]
rs1470536	0.88[EUR][1000 genomes]
rs1525062	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1662946	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1869423	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869424	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869429	0.87[EUR][1000 genomes]
rs1975555	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121600	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2123753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177698	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266377	0.81[EUR][1000 genomes]
rs2593440	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593442	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593443	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593448	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593452	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2593458	0.88[EUR][1000 genomes]
rs2593459	0.86[EUR][1000 genomes]
rs2593460	0.88[EUR][1000 genomes]
rs2593461	0.88[EUR][1000 genomes]
rs2593462	0.88[EUR][1000 genomes]
rs2593464	0.87[EUR][1000 genomes]
rs2593465	0.87[EUR][1000 genomes]
rs2593466	0.88[EUR][1000 genomes]
rs2593474	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602767	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602780	0.87[EUR][1000 genomes]
rs2602782	0.86[EUR][1000 genomes]
rs2602783	0.88[EUR][1000 genomes]
rs2602784	0.88[EUR][1000 genomes]
rs2602785	0.88[EUR][1000 genomes]
rs2602786	0.88[EUR][1000 genomes]
rs2602789	0.86[EUR][1000 genomes]
rs2602790	0.88[EUR][1000 genomes]
rs2602791	0.88[EUR][1000 genomes]
rs2602792	0.88[EUR][1000 genomes]
rs2602798	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602799	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602806	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602807	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602808	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609917	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609924	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609925	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609926	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609943	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609945	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609950	0.84[EUR][1000 genomes]
rs2609952	0.88[EUR][1000 genomes]
rs2609955	0.88[EUR][1000 genomes]
rs2609956	0.88[EUR][1000 genomes]
rs2609958	0.88[EUR][1000 genomes]
rs3862977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731031	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740440	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6759011	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572318	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7583211	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7591110	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592355	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605994	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7606200	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829563	0.82[EUR][1000 genomes]
rs829564	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829565	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs829581	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829616	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829617	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829629	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829632	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829635	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829639	0.83[EUR][1000 genomes]
rs829653	0.84[EUR][1000 genomes]
rs829660	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829681	0.84[EUR][1000 genomes]
rs829684	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs860487	0.83[EUR][1000 genomes]
rs866680	0.86[EUR][1000 genomes]
rs895662	0.88[EUR][1000 genomes]
rs895665	0.86[AMR][1000 genomes];0.92[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:84 , 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	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
3	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
5	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:30732000-30738400	Enhancers	K562	blood
8	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
9	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:30734000-30738200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:30734000-30739000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:30734800-30739200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:30734800-30741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:30734800-30742200	Weak transcription	Gastric	stomach
16	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:30735000-30741400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:30735000-30741600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:30735000-30741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:30735000-30742600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:30735000-30742600	Weak transcription	HSMMtube	muscle
22	chr2:30735400-30739000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:30735400-30741600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:30735400-30741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:30735400-30741800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:30735400-30742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:30735400-30742200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:30735400-30742600	Weak transcription	Fetal Intestine Large	intestine
29	chr2:30735600-30740800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:30735600-30741400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:30735600-30742800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:30736200-30738000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:30736400-30738000	Enhancers	HepG2	liver
34	chr2:30736600-30738200	Enhancers	GM12878-XiMat	blood
35	chr2:30736600-30738800	Enhancers	Fetal Lung	lung
36	chr2:30736800-30738000	Enhancers	Liver	Liver
37	chr2:30736800-30738200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:30736800-30739000	Weak transcription	Right Atrium	heart
39	chr2:30736800-30739000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:30736800-30752400	Weak transcription	Psoas Muscle	Psoas
41	chr2:30737000-30738000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:30737000-30738000	Enhancers	Colon Smooth Muscle	Colon
43	chr2:30737000-30738000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr2:30737000-30738200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:30737000-30738200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:30737000-30738200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:30737000-30738200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:30737000-30738200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:30737000-30738200	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:30737000-30738200	Enhancers	Skeletal Muscle Female	skeletal muscle

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