Variant report

Variant	rs294535
Chromosome Location	chr4:151747862-151747863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10003857	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10012460	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10025414	1.00[CEU][hapmap]
rs10857250	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148631	0.82[EUR][1000 genomes]
rs1148633	0.82[EUR][1000 genomes]
rs1148634	0.82[EUR][1000 genomes]
rs1148636	0.82[EUR][1000 genomes]
rs1148641	0.82[EUR][1000 genomes]
rs1148644	0.82[EUR][1000 genomes]
rs1148646	0.82[EUR][1000 genomes]
rs1148650	0.81[EUR][1000 genomes]
rs1148651	0.84[EUR][1000 genomes]
rs1148655	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737590	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201197	0.82[EUR][1000 genomes]
rs1201199	0.82[EUR][1000 genomes]
rs1201200	0.82[EUR][1000 genomes]
rs1201204	0.98[ASN][1000 genomes]
rs1201208	0.82[EUR][1000 genomes]
rs1201209	0.82[EUR][1000 genomes]
rs1201210	0.82[EUR][1000 genomes]
rs1201216	0.84[EUR][1000 genomes]
rs1212119	0.80[EUR][1000 genomes]
rs12499833	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12645871	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12648430	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1273331	0.82[EUR][1000 genomes]
rs1273332	0.82[EUR][1000 genomes]
rs1298678	0.82[EUR][1000 genomes]
rs13126388	0.81[EUR][1000 genomes]
rs1451634	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1583188	0.82[EUR][1000 genomes]
rs1583189	0.82[EUR][1000 genomes]
rs17027030	1.00[CEU][hapmap]
rs17027034	1.00[CEU][hapmap]
rs17027155	0.90[EUR][1000 genomes]
rs17027197	0.82[EUR][1000 genomes]
rs1782360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782365	0.82[EUR][1000 genomes]
rs184150	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs186080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947314	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2154349	0.82[EUR][1000 genomes]
rs2198191	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2198192	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2218899	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs294530	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs294531	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs294532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294533	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355367	1.00[CEU][hapmap]
rs4416458	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4533751	1.00[CEU][hapmap]
rs4696220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4696222	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4696630	0.84[ASN][1000 genomes]
rs4696632	0.89[EUR][1000 genomes]
rs4696634	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57003564	0.90[EUR][1000 genomes]
rs62344564	0.93[AFR][1000 genomes]
rs62344565	0.97[AFR][1000 genomes]
rs62344567	0.98[AFR][1000 genomes]
rs62344568	0.98[AFR][1000 genomes]
rs62344602	0.82[EUR][1000 genomes]
rs62346348	0.80[AFR][1000 genomes]
rs6535749	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6535750	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6811016	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6817726	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6820819	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6831200	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6836017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6838286	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6841158	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6851019	0.88[ASN][1000 genomes]
rs6852035	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6854740	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6855472	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7655761	0.84[ASN][1000 genomes]
rs7656796	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7663641	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7671635	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7677374	0.82[EUR][1000 genomes]
rs7682370	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7698142	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs891689	0.82[EUR][1000 genomes]
rs971640	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
21	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers 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	35 gene(s)	inside rSNPs	diseases
24	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:151711600-151749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:151723800-151748000	Weak transcription	Dnd41	blood
9	chr4:151724400-151770600	Weak transcription	A549	lung
10	chr4:151724800-151763400	Weak transcription	Esophagus	oesophagus
11	chr4:151725400-151749200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:151726600-151749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:151726600-151780400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:151727000-151749000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:151728200-151749200	Weak transcription	Pancreas	Pancrea
16	chr4:151728800-151749000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:151731600-151748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:151731600-151749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:151732200-151748800	Weak transcription	Fetal Stomach	stomach
20	chr4:151735000-151773000	Weak transcription	Hela-S3	cervix
21	chr4:151735800-151748800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:151737200-151754000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:151737200-151775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:151737400-151772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:151737800-151749200	Weak transcription	Fetal Lung	lung
26	chr4:151737800-151749200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:151737800-151751200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:151738400-151748400	Weak transcription	Adipose Nuclei	Adipose
29	chr4:151738400-151748600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:151738400-151749200	Weak transcription	NH-A	brain
31	chr4:151738400-151770400	Weak transcription	Brain Substantia Nigra	brain
32	chr4:151738400-151775200	Weak transcription	Osteobl	bone
33	chr4:151739200-151748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:151739800-151748800	Weak transcription	Aorta	Aorta
35	chr4:151739800-151749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:151740000-151749000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:151740000-151773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:151740600-151749400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:151742800-151748200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:151743000-151748000	Weak transcription	Brain Anterior Caudate	brain
41	chr4:151743000-151761200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:151743200-151748000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:151743400-151748200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:151743400-151749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:151743600-151749200	Weak transcription	Primary B cells from cord blood	blood
46	chr4:151743800-151748800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:151743800-151772800	Weak transcription	Placenta	Placenta
48	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:151744000-151749200	Weak transcription	HSMMtube	muscle
50	chr4:151744000-151761200	Weak transcription	Psoas Muscle	Psoas

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