Variant report

Variant	rs829673
Chromosome Location	chr2:30711784-30711785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10167083	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10175399	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10183928	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12053428	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12468064	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252624	0.85[EUR][1000 genomes]
rs1252625	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1252631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252646	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1252651	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252654	1.00[JPT][hapmap]
rs1525062	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs17009706	0.86[YRI][hapmap]
rs1869423	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs1869424	0.85[CEU][hapmap]
rs1975555	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs2121600	0.86[CEU][hapmap]
rs2123753	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs2167969	0.82[EUR][1000 genomes]
rs2177698	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593442	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2593474	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs2602767	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs2602808	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs2609917	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs2609945	0.82[JPT][hapmap]
rs2692035	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4476391	0.89[YRI][hapmap]
rs4952147	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6731031	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs6740440	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs6749074	0.81[EUR][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	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs829564	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829565	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs829574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829575	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829578	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829583	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829618	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs829620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs829622	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829630	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs829632	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829634	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs829641	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829653	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829654	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829662	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829663	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829664	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs829669	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829670	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829677	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829679	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829681	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829682	0.92[CEU][hapmap];1.00[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	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs860487	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs866680	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs9309680	0.87[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30697800-30720800	Weak transcription	Thymus	Thymus
2	chr2:30699000-30711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:30701200-30714400	Weak transcription	HSMM	muscle
4	chr2:30704600-30715800	Weak transcription	Psoas Muscle	Psoas
5	chr2:30704600-30719600	Weak transcription	Right Atrium	heart
6	chr2:30704600-30719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:30704600-30720600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:30704800-30714200	Weak transcription	HSMMtube	muscle
9	chr2:30704800-30714400	Weak transcription	A549	lung
10	chr2:30706400-30712200	Enhancers	Fetal Heart	heart
11	chr2:30707800-30715200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:30708000-30715400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:30708200-30716000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:30709200-30711800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:30709400-30712000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:30709800-30715800	Weak transcription	Right Ventricle	heart
17	chr2:30710400-30711800	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:30710600-30711800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:30710600-30711800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:30710600-30715800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:30710800-30715200	Weak transcription	Aorta	Aorta
22	chr2:30711000-30711800	Enhancers	Colon Smooth Muscle	Colon
23	chr2:30711000-30715000	Weak transcription	Osteobl	bone
24	chr2:30711200-30712000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:30711200-30713000	Strong transcription	Primary T cells from cord blood	blood
26	chr2:30711400-30715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:30711400-30715000	Weak transcription	HepG2	liver
28	chr2:30711400-30715000	Weak transcription	NHLF	lung
29	chr2:30711400-30715200	Weak transcription	Ovary	ovary
30	chr2:30711400-30715200	Weak transcription	GM12878-XiMat	blood
31	chr2:30711400-30716600	Weak transcription	Left Ventricle	heart
32	chr2:30711400-30717000	Weak transcription	Lung	lung
33	chr2:30711400-30717800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:30711400-30720600	Weak transcription	NHDF-Ad	bronchial
35	chr2:30711600-30711800	Enhancers	Fetal Lung	lung
36	chr2:30711600-30714400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:30711600-30715000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:30711600-30715200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:30711600-30715200	Weak transcription	Small Intestine	intestine
40	chr2:30711600-30715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:30711600-30715400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:30711600-30715400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:30711600-30715600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:30711600-30715600	Weak transcription	Fetal Kidney	kidney
45	chr2:30711600-30715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:30711600-30715800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:30711600-30715800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:30711600-30723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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