Variant report

Variant	rs925806
Chromosome Location	chr2:183996081-183996082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183986925..183992876-chr2:183993206..183999121,12	MCF-7	breast:
2	chr2:183993148..183997761-chr2:183998513..184002569,6	K562	blood:
3	chr2:183989133..183992574-chr2:183994168..183997354,4	MCF-7	breast:
4	chr2:183996075..183999033-chr2:184006956..184008661,2	MCF-7	breast:
5	chr2:183902664..183904534-chr2:183994708..183997463,2	K562	blood:
6	chr2:183900662..183904164-chr2:183994945..183997463,3	K562	blood:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10153562	0.92[YRI][hapmap]
rs10167583	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10194747	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11695124	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11900745	0.83[ASN][1000 genomes]
rs11901151	0.83[ASN][1000 genomes]
rs12990133	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs13033866	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1400131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1462532	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1462533	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1829122	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1882444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138484	0.90[YRI][hapmap]
rs2368375	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2368377	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2368382	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2675045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2675046	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2675082	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2675087	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2675090	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2675102	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2675108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2705760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2944353	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2952361	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2952363	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35898950	0.86[ASN][1000 genomes]
rs36116390	0.84[ASN][1000 genomes]
rs3791249	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4599071	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666891	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666894	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666897	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55865107	0.86[ASN][1000 genomes]
rs58605274	0.83[AMR][1000 genomes]
rs6705441	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6709729	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713182	0.88[ASN][1000 genomes]
rs6714769	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6733392	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67391943	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6744793	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754942	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6755399	0.86[ASN][1000 genomes]
rs6761345	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67952840	0.87[ASN][1000 genomes]
rs68009860	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7570918	0.86[ASN][1000 genomes]
rs7600893	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7601311	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers 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
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-183996200	Weak transcription	Lung	lung
2	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
3	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
4	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
7	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
9	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
10	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
13	chr2:183990800-184000000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
15	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:183991000-184008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:183991000-184008400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:183991000-184018400	Weak transcription	Gastric	stomach
21	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
22	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:183991200-184001400	Weak transcription	Pancreas	Pancrea
27	chr2:183991200-184008200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:183991200-184008400	Weak transcription	Osteobl	bone
29	chr2:183991200-184008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:183991200-184008800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:183991200-184011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
33	chr2:183991400-183996200	Weak transcription	HMEC	breast
34	chr2:183991400-183998200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:183991400-184008400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:183991400-184034000	Weak transcription	NHLF	lung
37	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
38	chr2:183991600-184003600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:183991600-184008400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:183991800-183999800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:183991800-184008000	Weak transcription	Brain Germinal Matrix	brain
44	chr2:183991800-184008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:183992000-184008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:183992200-183997600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:183992200-184008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:183992400-183997400	Strong transcription	Fetal Thymus	thymus
49	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
50	chr2:183992600-183997800	Strong transcription	A549	lung

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