Variant report

Variant	rs4696629
Chromosome Location	chr4:151593200-151593201
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	chr4:151586870..151590523-chr4:151590940..151593870,4	K562	blood:
2	chr4:151587714..151590523-chr4:151591747..151595848,4	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10000491	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10000655	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10025007	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10025414	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10155442	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10520078	0.87[CEU][hapmap];0.83[GIH][hapmap]
rs10857247	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099773	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099774	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11931175	0.87[EUR][1000 genomes]
rs12108435	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12499862	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12508892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12642528	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13111441	0.82[EUR][1000 genomes]
rs13144332	0.82[EUR][1000 genomes]
rs13145482	0.86[CEU][hapmap]
rs1470763	0.87[CEU][hapmap]
rs1504781	0.82[EUR][1000 genomes]
rs1504784	0.92[EUR][1000 genomes]
rs1532822	0.87[EUR][1000 genomes]
rs17027030	0.89[YRI][hapmap]
rs186080	1.00[CEU][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs28451271	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs294532	0.92[GIH][hapmap];0.82[TSI][hapmap]
rs4235250	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4269161	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4270570	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4289432	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4311291	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4318628	0.86[GIH][hapmap]
rs4327465	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4328896	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4330340	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4355367	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4358377	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4376124	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4396972	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4401437	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4417951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4450905	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4476581	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4533751	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4568218	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4604037	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4619872	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4619873	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4696186	0.87[EUR][1000 genomes]
rs4696214	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4696220	0.94[GIH][hapmap];0.82[TSI][hapmap]
rs4696537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62346268	0.80[AFR][1000 genomes]
rs6535743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs6535744	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs68016242	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6818709	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6825990	0.92[EUR][1000 genomes]
rs6826248	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6832498	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6835367	0.89[GIH][hapmap]
rs6836017	0.92[GIH][hapmap];0.82[TSI][hapmap]
rs6839548	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6846154	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6847725	1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6851587	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6852493	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6852703	0.81[EUR][1000 genomes]
rs6855667	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6858267	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7671045	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7674989	0.82[EUR][1000 genomes]
rs7686220	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7692615	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs905767	0.82[EUR][1000 genomes]
rs971640	0.81[LWK][hapmap];0.89[YRI][hapmap]
rs9790393	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9995388	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9995612	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9997018	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3383815	chr4:151592947-151593220	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151533400-151596200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:151571200-151601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:151571200-151604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:151574800-151601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:151579400-151604400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:151582200-151642800	Weak transcription	Left Ventricle	heart
9	chr4:151582600-151595800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:151583400-151603400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:151586000-151600800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:151586400-151604800	Weak transcription	HSMM	muscle
13	chr4:151587000-151600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:151587000-151600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:151587000-151603400	Weak transcription	Aorta	Aorta
16	chr4:151587000-151604600	Weak transcription	Small Intestine	intestine
17	chr4:151587400-151605000	Weak transcription	GM12878-XiMat	blood
18	chr4:151590200-151601000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151590800-151603200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:151591200-151599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:151591200-151607600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:151592400-151593200	Strong transcription	Primary B cells from cord blood	blood
23	chr4:151592800-151593200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:151593000-151593200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:151593200-151604400	Weak transcription	Primary B cells from cord blood	blood
26	chr4:151593200-151605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:151593200-151610800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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