Variant report

Variant	rs6758182
Chromosome Location	chr2:184034539-184034540
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11894093	0.91[ASN][1000 genomes]
rs11904060	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12105081	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12989618	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12992879	0.90[ASN][1000 genomes]
rs12993299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12994342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13008910	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13017363	0.90[ASN][1000 genomes]
rs13023488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023969	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13024949	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13035624	0.88[CEU][hapmap]
rs1316974	0.91[ASN][1000 genomes]
rs1806531	0.87[ASN][1000 genomes]
rs1829121	0.82[ASN][1000 genomes]
rs2254866	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2952363	0.90[CHB][hapmap]
rs34100542	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34266937	0.90[ASN][1000 genomes]
rs34424877	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34426887	0.91[ASN][1000 genomes]
rs34591399	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34743637	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34767214	0.92[ASN][1000 genomes]
rs34921390	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34967913	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35220507	0.88[ASN][1000 genomes]
rs35290003	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35479161	0.97[ASN][1000 genomes]
rs35661877	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35672629	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35799804	0.92[ASN][1000 genomes]
rs35873918	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36021851	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36054361	0.90[ASN][1000 genomes]
rs36100240	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748884	0.94[ASN][1000 genomes]
rs3762477	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6434007	0.97[ASN][1000 genomes]
rs6434008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6434009	0.98[ASN][1000 genomes]
rs6705625	0.94[ASN][1000 genomes]
rs6705795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709753	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6715963	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724387	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729425	1.00[ASN][1000 genomes]
rs6730009	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732406	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6740679	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6748218	1.00[ASN][1000 genomes]
rs6754901	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6754938	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6759975	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71427875	0.92[ASN][1000 genomes]
rs71427877	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs71427878	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71427880	0.93[ASN][1000 genomes]
rs73977848	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571226	0.91[ASN][1000 genomes]
rs7587081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592910	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7597557	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv821842	chr2:184030701-184037931	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
7	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
8	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
9	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
11	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
14	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
15	chr2:184019000-184036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:184019000-184043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:184019000-184050000	Weak transcription	Gastric	stomach
18	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
19	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:184026600-184043200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:184026800-184047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:184027400-184035800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:184028600-184045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:184028800-184043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:184028800-184043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:184029000-184036400	Weak transcription	Spleen	Spleen
30	chr2:184029000-184047400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:184029200-184036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:184029200-184043000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:184029200-184043200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:184029200-184043600	Weak transcription	Right Ventricle	heart
35	chr2:184029200-184047200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:184029200-184047200	Weak transcription	HepG2	liver
37	chr2:184029200-184047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:184029200-184047400	Weak transcription	HSMM	muscle
39	chr2:184029200-184050000	Weak transcription	HUVEC	blood vessel
40	chr2:184029200-184054800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:184029400-184039200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:184029400-184040400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:184029400-184043400	Weak transcription	Adipose Nuclei	Adipose
45	chr2:184029400-184043400	Weak transcription	Left Ventricle	heart
46	chr2:184029400-184043400	Weak transcription	Ovary	ovary
47	chr2:184029400-184043600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:184029400-184043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:184029400-184043600	Weak transcription	Lung	lung
50	chr2:184029400-184043800	Weak transcription	NH-A	brain

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