Variant report

Variant	rs829653
Chromosome Location	chr2:30714906-30714907
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	chr2:30714804..30716458-chr2:30719882..30722060,2	K562	blood:
2	chr2:30714704..30716589-chr2:30882224..30884940,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10865520	0.84[EUR][1000 genomes]
rs1096109	0.84[EUR][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12468064	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252631	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1252640	0.84[EUR][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1252651	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1252654	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1525062	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1662946	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009647	1.00[YRI][hapmap]
rs17009802	1.00[YRI][hapmap]
rs17009815	1.00[YRI][hapmap]
rs1869423	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1869424	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1975555	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs2123753	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2177698	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2593442	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2593455	0.81[EUR][1000 genomes]
rs2593474	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2602767	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2602808	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2609917	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2609945	0.93[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs3862977	0.84[EUR][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6718986	1.00[YRI][hapmap]
rs6731031	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6740440	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6759011	0.82[EUR][1000 genomes]
rs6761612	1.00[YRI][hapmap]
rs7566983	0.84[EUR][1000 genomes]
rs7583211	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7591110	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7592355	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7605994	0.83[EUR][1000 genomes]
rs7606200	0.82[EUR][1000 genomes]
rs829563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829565	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829581	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.84[EUR][1000 genomes]
rs829617	0.84[EUR][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	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs829630	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829632	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.84[EUR][1000 genomes]
rs829637	0.84[EUR][1000 genomes]
rs829639	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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]
rs829654	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829655	0.85[JPT][hapmap]
rs829659	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829660	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829661	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829664	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][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];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829694	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829695	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829696	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829699	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs829700	0.93[ASN][1000 genomes]
rs829701	0.87[ASN][1000 genomes]
rs844194	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs860487	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs866680	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30697800-30720800	Weak transcription	Thymus	Thymus
2	chr2:30704600-30715800	Weak transcription	Psoas Muscle	Psoas
3	chr2:30704600-30719600	Weak transcription	Right Atrium	heart
4	chr2:30704600-30719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:30704600-30720600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:30707800-30715200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:30708000-30715400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:30708200-30716000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:30709800-30715800	Weak transcription	Right Ventricle	heart
10	chr2:30710600-30715800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:30710800-30715200	Weak transcription	Aorta	Aorta
12	chr2:30711000-30715000	Weak transcription	Osteobl	bone
13	chr2:30711400-30715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:30711400-30715000	Weak transcription	HepG2	liver
15	chr2:30711400-30715000	Weak transcription	NHLF	lung
16	chr2:30711400-30715200	Weak transcription	Ovary	ovary
17	chr2:30711400-30715200	Weak transcription	GM12878-XiMat	blood
18	chr2:30711400-30716600	Weak transcription	Left Ventricle	heart
19	chr2:30711400-30717000	Weak transcription	Lung	lung
20	chr2:30711400-30717800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:30711400-30720600	Weak transcription	NHDF-Ad	bronchial
22	chr2:30711600-30715000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:30711600-30715200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:30711600-30715200	Weak transcription	Small Intestine	intestine
25	chr2:30711600-30715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:30711600-30715400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:30711600-30715400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:30711600-30715600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:30711600-30715600	Weak transcription	Fetal Kidney	kidney
30	chr2:30711600-30715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:30711600-30715800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:30711600-30715800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:30711600-30723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:30711800-30715000	Weak transcription	Fetal Lung	lung
35	chr2:30711800-30715800	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:30711800-30717400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:30712000-30715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:30712000-30717400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:30713000-30720600	Weak transcription	Primary T cells from cord blood	blood
40	chr2:30714200-30716000	Enhancers	HSMMtube	muscle
41	chr2:30714200-30716600	Enhancers	Fetal Heart	heart
42	chr2:30714400-30716200	Enhancers	A549	lung
43	chr2:30714400-30716200	Enhancers	HSMM	muscle
44	chr2:30714400-30723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:30714800-30715400	Enhancers	Skeletal Muscle Female	skeletal muscle

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