Variant report

Variant	rs2705725
Chromosome Location	chr2:183995536-183995537
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	chr2:183994056..183995638-chr2:184003260..184004880,2	K562	blood:
3	chr2:183993148..183997761-chr2:183998513..184002569,6	K562	blood:
4	chr2:183989133..183992574-chr2:183994168..183997354,4	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
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10166767	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931063	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931066	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11684034	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893450	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1462535	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1462536	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824143	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882441	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882443	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1980160	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2176227	0.81[AMR][1000 genomes]
rs2176231	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248705	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251775	1.00[CHD][hapmap]
rs2254867	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254877	0.93[CEU][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2459336	0.81[AMR][1000 genomes]
rs2675044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675059	0.85[AMR][1000 genomes]
rs2675081	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675096	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675097	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675099	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675100	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675103	0.81[AMR][1000 genomes]
rs2705711	0.81[AMR][1000 genomes]
rs2705717	0.81[AMR][1000 genomes]
rs2705722	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705723	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705724	0.93[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705726	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705759	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705761	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2705764	0.81[AMR][1000 genomes]
rs2887233	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952359	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34446915	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441423	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474850	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666613	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666615	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666616	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666617	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666618	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666619	0.93[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666893	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666895	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57951311	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58281223	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58953222	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59640908	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60745950	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60932045	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434006	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434012	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434014	0.90[EUR][1000 genomes]
rs6434018	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434020	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735968	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737988	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6751275	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896587	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896589	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896592	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896594	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898506	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898520	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898559	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355427	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420841	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585172	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585433	0.93[EUR][1000 genomes]
rs7588899	0.92[EUR][1000 genomes];0.89[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	chr2:183990600-183995600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:183990600-183995800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
15	chr2:183990800-183995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:183990800-184000000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
18	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:183991000-183995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:183991000-183995600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:183991000-183996000	Weak transcription	Fetal Heart	heart
22	chr2:183991000-184008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:183991000-184008400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:183991000-184018400	Weak transcription	Gastric	stomach
27	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
28	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:183991200-183995600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:183991200-183995600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:183991200-183995600	Weak transcription	Fetal Stomach	stomach
35	chr2:183991200-184001400	Weak transcription	Pancreas	Pancrea
36	chr2:183991200-184008200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:183991200-184008400	Weak transcription	Osteobl	bone
38	chr2:183991200-184008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:183991200-184008800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:183991200-184011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
42	chr2:183991400-183996200	Weak transcription	HMEC	breast
43	chr2:183991400-183998200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:183991400-184008400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:183991400-184034000	Weak transcription	NHLF	lung
46	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
47	chr2:183991600-183995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:183991600-184003600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:183991600-184008400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--

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