Variant report

Variant	rs2705759
Chromosome Location	chr2:184005260-184005261
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	chr2:184001895..184006122-chr2:184006438..184011885,6	K562	blood:
2	chr2:183990685..183993122-chr2:184003291..184005876,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10166767	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931063	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931066	0.94[EUR][1000 genomes]
rs11684034	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11893450	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316842	0.84[AFR][1000 genomes]
rs1462535	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462536	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824143	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882441	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882443	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980160	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248705	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254867	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2254877	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675044	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675081	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675085	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675100	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705722	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705723	0.93[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705724	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705725	0.93[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705726	0.93[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705761	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705762	0.99[EUR][1000 genomes]
rs2887233	0.93[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2952359	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34446915	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4441423	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474850	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666613	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666615	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666616	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666617	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666618	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666619	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666893	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666895	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57951311	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281223	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58953222	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59640908	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60745950	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60932045	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434006	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434012	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434014	0.94[EUR][1000 genomes]
rs6434018	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434020	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6735968	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6737988	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751275	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896587	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896589	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896592	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72896594	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72898506	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72898520	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72898521	0.84[AFR][1000 genomes]
rs72898559	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7355427	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7420841	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585172	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585433	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7588899	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
2	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
5	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
7	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
8	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
11	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
12	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:183991000-184008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:183991000-184008400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:183991000-184018400	Weak transcription	Gastric	stomach
18	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
19	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:183991200-184008200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:183991200-184008400	Weak transcription	Osteobl	bone
25	chr2:183991200-184008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:183991200-184008800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:183991200-184011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
29	chr2:183991400-184008400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:183991400-184034000	Weak transcription	NHLF	lung
31	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
32	chr2:183991600-184008400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:183991800-184008000	Weak transcription	Brain Germinal Matrix	brain
36	chr2:183991800-184008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:183992000-184008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:183992200-184008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
40	chr2:183992600-184005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:183992800-184008000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:183993000-184006600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:183993000-184007200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:183993400-184007200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:183994600-184008000	Strong transcription	Dnd41	blood
46	chr2:183995000-184008200	Weak transcription	Psoas Muscle	Psoas
47	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:183995400-184008800	Weak transcription	NH-A	brain
49	chr2:183996000-184006600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:183996000-184008400	Weak transcription	Fetal Brain Female	brain

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