Variant report

Variant	rs4696222
Chromosome Location	chr4:151675819-151675820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151672564..151675324-chr4:151675370..151678204,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10003857	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10012460	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025414	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs10520078	0.89[GIH][hapmap]
rs10857250	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148651	0.80[EUR][1000 genomes]
rs1148655	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11737590	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1201204	0.85[ASN][1000 genomes]
rs1201208	0.91[TSI][hapmap]
rs1201210	0.91[TSI][hapmap]
rs1201216	0.80[EUR][1000 genomes]
rs12499833	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508892	0.92[GIH][hapmap];0.82[TSI][hapmap]
rs12645871	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12648430	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13126388	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1451634	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17027030	1.00[CEU][hapmap]
rs17027034	1.00[CEU][hapmap]
rs17027155	0.87[EUR][1000 genomes]
rs1782360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs184150	0.83[ASN][1000 genomes]
rs186080	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1947314	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198191	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2218899	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs294530	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs294532	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs294533	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs294535	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4318628	0.92[GIH][hapmap]
rs4336207	0.83[GIH][hapmap]
rs4355367	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs4416458	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4431210	1.00[CEU][hapmap]
rs4533751	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs4696220	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696537	1.00[CEU][hapmap]
rs4696630	0.97[ASN][1000 genomes]
rs4696632	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4696634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57003564	0.87[EUR][1000 genomes]
rs62346348	0.81[AFR][1000 genomes]
rs6535749	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535750	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6811016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817726	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6820819	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6831200	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835367	0.84[GIH][hapmap]
rs6836017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6838286	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6841158	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847725	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs6851019	0.95[ASN][1000 genomes]
rs6852035	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854740	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6855472	0.89[EUR][1000 genomes]
rs716474	0.90[AFR][1000 genomes]
rs7655761	0.97[ASN][1000 genomes]
rs7656796	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7663641	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7671635	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7682370	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7698142	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs971640	1.00[CEU][hapmap];0.83[LWK][hapmap]
rs9884181	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645400-151695000	Weak transcription	Esophagus	oesophagus
2	chr4:151645600-151690400	Weak transcription	K562	blood
3	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:151647800-151677600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:151648000-151676400	Weak transcription	Ovary	ovary
6	chr4:151648200-151703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:151653000-151683800	Weak transcription	Fetal Kidney	kidney
8	chr4:151653000-151692200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:151653000-151694400	Weak transcription	Thymus	Thymus
10	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:151653200-151686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:151653200-151690600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:151655200-151685400	Weak transcription	HSMMtube	muscle
14	chr4:151656400-151681600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:151656600-151693400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:151657000-151700600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:151661000-151686000	Weak transcription	Fetal Intestine Small	intestine
18	chr4:151661000-151691200	Weak transcription	GM12878-XiMat	blood
19	chr4:151662600-151676200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:151662600-151676400	Weak transcription	Psoas Muscle	Psoas
21	chr4:151665000-151690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:151665000-151690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:151666200-151680200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:151668400-151680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:151668800-151720000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:151669000-151693400	Weak transcription	Primary B cells from cord blood	blood
28	chr4:151670000-151692400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:151670600-151685400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:151670800-151690800	Weak transcription	Primary T cells from cord blood	blood
31	chr4:151671600-151676200	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:151671800-151679200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:151673200-151678600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:151674200-151722600	Weak transcription	Fetal Thymus	thymus
35	chr4:151675200-151676200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:151675200-151695400	Weak transcription	Aorta	Aorta

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