Variant report

Variant	rs2970581
Chromosome Location	chr1:212083512-212083513
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	chr1:212067506..212069441-chr1:212082442..212085014,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap]
rs10863927	0.91[EUR][1000 genomes]
rs10863938	1.00[CEU][hapmap]
rs11119818	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11119819	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1418047	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1539196	0.86[EUR][1000 genomes]
rs2000168	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2050953	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2105322	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788128	0.91[EUR][1000 genomes]
rs2788129	0.91[EUR][1000 genomes]
rs2788130	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788134	0.86[EUR][1000 genomes]
rs2788135	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788136	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788137	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788141	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2788144	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808376	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808377	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808380	0.91[EUR][1000 genomes]
rs2808383	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2808387	0.91[EUR][1000 genomes]
rs2808390	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28475044	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28851183	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2970573	0.91[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2970575	0.91[EUR][1000 genomes]
rs2970576	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2970585	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970586	1.00[CEU][hapmap]
rs2970600	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap]
rs2993525	1.00[CEU][hapmap]
rs2993527	1.00[CEU][hapmap]
rs2993530	0.86[EUR][1000 genomes]
rs2993532	0.86[EUR][1000 genomes]
rs2993536	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993537	0.86[EUR][1000 genomes]
rs2993540	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2993542	0.91[EUR][1000 genomes]
rs2993543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2993546	1.00[CEU][hapmap]
rs2993549	1.00[CEU][hapmap]
rs3009986	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009990	0.86[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009994	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009995	0.86[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009998	0.86[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010008	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3010014	1.00[CEU][hapmap]
rs3010015	1.00[CEU][hapmap]
rs3010017	1.00[CEU][hapmap]
rs3010018	1.00[CEU][hapmap]
rs3010022	1.00[CEU][hapmap]
rs4245744	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4397712	1.00[CEU][hapmap]
rs4508084	0.91[EUR][1000 genomes]
rs4579825	0.91[EUR][1000 genomes]
rs4951424	0.86[EUR][1000 genomes]
rs4951427	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951429	0.91[EUR][1000 genomes]
rs4951430	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4951432	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4951437	1.00[CEU][hapmap]
rs4951547	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951549	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs60146950	0.86[EUR][1000 genomes]
rs6540710	0.91[EUR][1000 genomes]
rs6656826	1.00[CEU][hapmap]
rs6658972	1.00[CEU][hapmap]
rs6664386	0.81[EUR][1000 genomes]
rs6669803	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6672030	1.00[CEU][hapmap]
rs6672393	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6685282	0.91[EUR][1000 genomes]
rs6689342	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6693275	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6697341	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6699292	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6699981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7413558	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7545377	0.91[EUR][1000 genomes]
rs7553567	0.84[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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212076200-212083600	Weak transcription	Pancreas	Pancrea
2	chr1:212079600-212087400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212080400-212087600	Enhancers	Fetal Intestine Large	intestine
4	chr1:212080800-212087000	Enhancers	Fetal Intestine Small	intestine
5	chr1:212081000-212085000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:212081200-212083600	Weak transcription	Esophagus	oesophagus
7	chr1:212081800-212085800	Enhancers	Liver	Liver
8	chr1:212082400-212083800	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:212082400-212084000	Flanking Active TSS	HepG2	liver
10	chr1:212082400-212084200	Enhancers	Adipose Nuclei	Adipose
11	chr1:212082400-212086600	Enhancers	A549	lung
12	chr1:212082600-212085000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:212082800-212083600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:212082800-212083600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:212082800-212084400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:212082800-212093400	Weak transcription	Right Atrium	heart
17	chr1:212083400-212085400	Enhancers	Colonic Mucosa	Colon

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