Variant report

Variant	rs2164712
Chromosome Location	chr2:100745404-100745405
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100740146..100742521-chr2:100744852..100747122,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10185059	0.86[EUR][1000 genomes]
rs10185510	0.86[EUR][1000 genomes]
rs10197987	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10496344	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11123809	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11123810	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11123812	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11123813	0.89[EUR][1000 genomes]
rs11681227	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11681966	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11690905	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11694875	0.89[ASN][1000 genomes]
rs11885529	0.96[ASN][1000 genomes]
rs11891046	0.85[EUR][1000 genomes]
rs11899489	0.89[EUR][1000 genomes]
rs11900482	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11902705	0.86[EUR][1000 genomes]
rs12712064	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12712067	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12712068	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12712071	0.85[EUR][1000 genomes]
rs12987209	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12987212	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13003982	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13005282	0.83[EUR][1000 genomes]
rs13032454	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13415465	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13415583	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1370353	0.89[EUR][1000 genomes]
rs1561230	0.96[ASN][1000 genomes]
rs1821826	0.89[EUR][1000 genomes]
rs1821827	0.89[EUR][1000 genomes]
rs2009094	0.89[EUR][1000 genomes]
rs2009095	0.89[EUR][1000 genomes]
rs2118280	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4490209	0.89[EUR][1000 genomes]
rs4850921	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851252	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4851253	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4851256	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851257	0.88[EUR][1000 genomes]
rs56054309	0.86[EUR][1000 genomes]
rs7565967	0.90[ASN][1000 genomes]
rs7575877	0.93[ASN][1000 genomes]
rs7590378	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7593261	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100730800-100746400	Weak transcription	Spleen	Spleen
2	chr2:100732000-100749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100732000-100754400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:100734400-100748000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:100736800-100747400	Strong transcription	Primary B cells from cord blood	blood
6	chr2:100739800-100746400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:100741400-100747000	Strong transcription	Primary T cells from cord blood	blood
8	chr2:100741600-100745800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:100742000-100746000	Strong transcription	Dnd41	blood
10	chr2:100742200-100747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:100742400-100747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:100742400-100753600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:100742400-100754000	Weak transcription	Gastric	stomach
14	chr2:100742800-100746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:100742800-100754000	Weak transcription	Lung	lung
16	chr2:100743200-100751400	Weak transcription	Fetal Thymus	thymus
17	chr2:100743800-100746000	Weak transcription	Fetal Brain Female	brain
18	chr2:100744000-100745800	Weak transcription	Fetal Brain Male	brain
19	chr2:100744200-100751400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:100745000-100747000	Strong transcription	Thymus	Thymus
21	chr2:100745200-100745600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:100745200-100750200	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr2:100745400-100751200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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