Variant report

Variant	rs294530
Chromosome Location	chr4:151757184-151757185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10003857	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10012460	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10034173	0.82[EUR][1000 genomes]
rs10222881	0.82[EUR][1000 genomes]
rs10857250	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1148631	0.87[EUR][1000 genomes]
rs1148633	0.87[EUR][1000 genomes]
rs1148634	0.87[EUR][1000 genomes]
rs1148636	0.87[EUR][1000 genomes]
rs1148641	0.87[EUR][1000 genomes]
rs1148644	0.87[EUR][1000 genomes]
rs1148646	0.87[EUR][1000 genomes]
rs1148650	0.85[EUR][1000 genomes]
rs1148651	0.89[EUR][1000 genomes]
rs1148655	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737590	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1201197	0.87[EUR][1000 genomes]
rs1201199	0.87[EUR][1000 genomes]
rs1201200	0.87[EUR][1000 genomes]
rs1201204	0.97[ASN][1000 genomes]
rs1201208	0.87[EUR][1000 genomes]
rs1201209	0.87[EUR][1000 genomes]
rs1201210	0.87[EUR][1000 genomes]
rs1201216	0.89[EUR][1000 genomes]
rs1212119	0.85[EUR][1000 genomes]
rs12499833	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12501829	0.82[EUR][1000 genomes]
rs12645871	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12648430	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1273329	0.82[EUR][1000 genomes]
rs1273331	0.87[EUR][1000 genomes]
rs1273332	0.87[EUR][1000 genomes]
rs1298678	0.87[EUR][1000 genomes]
rs1451634	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1583188	0.87[EUR][1000 genomes]
rs1583189	0.87[EUR][1000 genomes]
rs1615230	0.82[EUR][1000 genomes]
rs17027155	0.95[EUR][1000 genomes]
rs17027197	0.87[EUR][1000 genomes]
rs17027226	0.82[EUR][1000 genomes]
rs1782360	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1782365	0.87[EUR][1000 genomes]
rs184150	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186080	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1947314	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1975112	0.82[EUR][1000 genomes]
rs2154349	0.87[EUR][1000 genomes]
rs2198191	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2198192	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2218899	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2912477	0.81[EUR][1000 genomes]
rs2915451	0.82[EUR][1000 genomes]
rs294531	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs294532	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs294533	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs294535	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952814	0.82[EUR][1000 genomes]
rs2952817	0.82[EUR][1000 genomes]
rs2952818	0.81[EUR][1000 genomes]
rs4416458	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4696220	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4696222	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4696630	0.82[ASN][1000 genomes]
rs4696632	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4696634	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4696648	0.82[EUR][1000 genomes]
rs57003564	0.95[EUR][1000 genomes]
rs57029739	0.82[EUR][1000 genomes]
rs62344564	0.85[AFR][1000 genomes]
rs62344565	0.88[AFR][1000 genomes]
rs62344567	0.89[AFR][1000 genomes]
rs62344568	0.88[AFR][1000 genomes]
rs62344602	0.87[EUR][1000 genomes]
rs62344619	0.82[EUR][1000 genomes]
rs62344622	0.82[EUR][1000 genomes]
rs62344623	0.82[EUR][1000 genomes]
rs62346348	0.90[AFR][1000 genomes]
rs6535749	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6535750	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6535756	0.82[EUR][1000 genomes]
rs6535757	0.81[EUR][1000 genomes]
rs6811016	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6817726	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6820819	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6831200	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6833956	0.82[EUR][1000 genomes]
rs6836017	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6838286	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6839352	0.84[EUR][1000 genomes]
rs6841158	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6851019	0.87[ASN][1000 genomes]
rs6852035	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6854740	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6855472	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs716474	0.86[AFR][1000 genomes]
rs7655761	0.82[ASN][1000 genomes]
rs7656796	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7663641	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7671635	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7677374	0.87[EUR][1000 genomes]
rs7682370	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7684325	0.81[EUR][1000 genomes]
rs7698142	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs891689	0.87[EUR][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:151724400-151770600	Weak transcription	A549	lung
3	chr4:151724800-151763400	Weak transcription	Esophagus	oesophagus
4	chr4:151726600-151780400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:151735000-151773000	Weak transcription	Hela-S3	cervix
6	chr4:151737200-151775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:151737400-151772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:151738400-151770400	Weak transcription	Brain Substantia Nigra	brain
9	chr4:151738400-151775200	Weak transcription	Osteobl	bone
10	chr4:151740000-151773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:151743000-151761200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:151743800-151772800	Weak transcription	Placenta	Placenta
13	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:151744000-151761200	Weak transcription	Psoas Muscle	Psoas
15	chr4:151745000-151780600	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:151746200-151764200	Weak transcription	Lung	lung
17	chr4:151746400-151775000	Weak transcription	HSMM	muscle
18	chr4:151746800-151770000	Weak transcription	NHEK	skin
19	chr4:151748400-151774600	Weak transcription	Small Intestine	intestine
20	chr4:151748400-151795600	Weak transcription	Brain Angular Gyrus	brain
21	chr4:151749400-151775200	Weak transcription	NH-A	brain
22	chr4:151749600-151761200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:151749600-151770400	Weak transcription	HUVEC	blood vessel
24	chr4:151749600-151770600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:151749600-151772400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:151749800-151759400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:151749800-151759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:151749800-151759400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:151749800-151759400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:151749800-151759800	Weak transcription	Fetal Lung	lung
31	chr4:151749800-151760400	Weak transcription	Adipose Nuclei	Adipose
32	chr4:151749800-151760400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:151749800-151761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:151749800-151761000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:151749800-151761000	Weak transcription	Ovary	ovary
36	chr4:151749800-151761000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:151749800-151761000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:151749800-151761000	Weak transcription	HSMMtube	muscle
39	chr4:151749800-151761000	Weak transcription	K562	blood
40	chr4:151749800-151761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:151749800-151761200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:151749800-151761200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:151749800-151761200	Weak transcription	Liver	Liver
44	chr4:151749800-151761200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:151749800-151761200	Weak transcription	Fetal Thymus	thymus
46	chr4:151749800-151761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:151749800-151761400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:151749800-151761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:151749800-151762800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:151749800-151763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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