Variant report

Variant	rs7600014
Chromosome Location	chr2:39503691-39503692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39499119..39502094-chr2:39503052..39505530,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10153665	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs10170424	0.88[EUR][1000 genomes]
rs10170617	0.88[EUR][1000 genomes]
rs10172736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs10173556	0.92[EUR][1000 genomes]
rs10175038	0.96[EUR][1000 genomes]
rs10190069	0.85[EUR][1000 genomes]
rs10193636	1.00[CHB][hapmap]
rs10195629	0.92[EUR][1000 genomes]
rs1035232	0.92[EUR][1000 genomes]
rs10865149	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10865150	0.83[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10865152	0.94[EUR][1000 genomes]
rs11124668	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11124673	0.89[EUR][1000 genomes]
rs11124676	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11124679	0.90[EUR][1000 genomes]
rs1125839	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11688728	0.82[EUR][1000 genomes]
rs1211996	0.91[EUR][1000 genomes]
rs12622941	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12712636	0.82[EUR][1000 genomes]
rs1468902	0.93[EUR][1000 genomes]
rs17023837	0.87[EUR][1000 genomes]
rs1861735	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1922827	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2005892	0.94[EUR][1000 genomes]
rs2178760	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2178762	0.90[EUR][1000 genomes]
rs2193422	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2373527	0.84[ASW][hapmap]
rs2373534	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2373535	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs2542008	0.92[EUR][1000 genomes]
rs2888594	0.90[EUR][1000 genomes]
rs2888598	0.90[EUR][1000 genomes]
rs3755177	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3755178	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3770663	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs3770670	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3770675	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3770678	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3815594	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs4670934	0.83[ASW][hapmap]
rs6544213	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6544220	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6544222	0.94[EUR][1000 genomes]
rs6544223	0.83[ASW][hapmap]
rs6544224	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs6712274	0.90[EUR][1000 genomes]
rs6712921	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6718134	0.94[EUR][1000 genomes]
rs6725938	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6732611	0.87[EUR][1000 genomes]
rs6736700	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6741019	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6742170	0.92[EUR][1000 genomes]
rs6743041	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6753323	0.88[EUR][1000 genomes]
rs6756183	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6760382	0.94[EUR][1000 genomes]
rs7573535	0.86[CHB][hapmap]
rs7574250	0.81[AMR][1000 genomes]
rs7578136	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7579414	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7582160	0.83[ASW][hapmap]
rs7583170	0.84[ASW][hapmap]
rs759589	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7600046	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601700	0.83[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603337	0.94[EUR][1000 genomes]
rs7604047	0.86[EUR][1000 genomes]
rs7608153	0.88[EUR][1000 genomes]
rs9309039	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv2693	chr2:39468641-39513800	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv873886	chr2:39468676-39573521	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	esv1809158	chr2:39474679-39588797	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39469200-39503800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:39469400-39504200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39471200-39503800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:39471200-39504200	Weak transcription	Esophagus	oesophagus
5	chr2:39472600-39504000	Weak transcription	Thymus	Thymus
6	chr2:39473400-39517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:39476600-39527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39478600-39543400	Weak transcription	Stomach Mucosa	stomach
9	chr2:39479000-39521200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:39481000-39504200	Weak transcription	Spleen	Spleen
11	chr2:39481000-39580200	Weak transcription	NHEK	skin
12	chr2:39481400-39504000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:39484400-39516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:39484600-39504000	Weak transcription	Fetal Brain Male	brain
15	chr2:39485200-39503800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:39485200-39504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:39487600-39504400	Weak transcription	Gastric	stomach
18	chr2:39487600-39513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:39487800-39504000	Weak transcription	Aorta	Aorta
20	chr2:39492600-39505200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:39493600-39504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:39493600-39504200	Weak transcription	Pancreas	Pancrea
23	chr2:39493600-39523800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:39493600-39565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:39493800-39506800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:39493800-39509800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:39493800-39516600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:39493800-39525000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:39494000-39525600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:39494000-39553000	Weak transcription	GM12878-XiMat	blood
31	chr2:39495600-39510400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:39495600-39523200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:39495800-39507200	Strong transcription	Liver	Liver
34	chr2:39496400-39521200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:39496600-39506800	Strong transcription	HSMM	muscle
36	chr2:39496600-39508000	Strong transcription	HepG2	liver
37	chr2:39496600-39515000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:39496600-39520400	Strong transcription	Placenta	Placenta
39	chr2:39496800-39507200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:39496800-39507200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:39497000-39510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:39497000-39516600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:39497200-39506600	Strong transcription	Osteobl	bone
44	chr2:39497200-39507000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr2:39497200-39516000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:39497400-39506800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:39497400-39507200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:39497400-39507400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:39497600-39506800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:39497800-39507000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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