Variant report

Variant	rs4961068
Chromosome Location	chr8:87077530-87077531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87076395..87078069-chr8:87079542..87081146,2	MCF-7	breast:
2	chr8:87076368..87077951-chr8:87084821..87086761,2	MCF-7	breast:
3	chr8:87065472..87068267-chr8:87076592..87078873,2	K562	blood:

Variant related genes	Relation type
ENSG00000147614	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10098631	0.86[CHB][hapmap]
rs10099368	0.86[CHB][hapmap]
rs10102252	0.91[CHB][hapmap]
rs10103166	0.87[CHB][hapmap]
rs10106391	0.86[CHB][hapmap]
rs10106497	0.91[CHB][hapmap]
rs10112076	0.86[CHB][hapmap]
rs10504819	0.86[CHB][hapmap]
rs11988449	0.91[CHB][hapmap]
rs12156049	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12156243	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12549188	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12682430	0.91[CHB][hapmap]
rs13252217	0.86[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13257877	0.91[CHB][hapmap]
rs13267067	0.86[CHB][hapmap]
rs13281890	0.91[CHB][hapmap]
rs1384877	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1384878	0.91[CHB][hapmap]
rs1384879	0.91[CHB][hapmap]
rs1483765	0.85[EUR][1000 genomes]
rs1483774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1601151	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16876450	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16878983	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16881545	0.87[CHB][hapmap]
rs16883602	0.83[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs16887456	0.86[CHB][hapmap]
rs1872135	0.90[CHB][hapmap]
rs2220106	0.84[EUR][1000 genomes]
rs2318396	0.86[CHB][hapmap]
rs2318936	0.86[CHB][hapmap]
rs34300959	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34441347	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3802225	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs4960944	0.92[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4960953	0.91[CHB][hapmap]
rs4960955	0.91[CHB][hapmap]
rs4960959	0.86[CHB][hapmap]
rs4961044	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4961045	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4961057	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4961071	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4961074	0.91[CHB][hapmap]
rs4961077	0.82[CHB][hapmap]
rs4961092	0.91[CHB][hapmap]
rs57651622	0.82[EUR][1000 genomes]
rs57962008	0.82[EUR][1000 genomes]
rs58243820	0.82[EUR][1000 genomes]
rs59028033	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61629815	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62509893	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62509894	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62509924	0.84[EUR][1000 genomes]
rs62509930	0.82[EUR][1000 genomes]
rs62509933	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6993377	0.86[CHB][hapmap]
rs6998760	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7001674	0.91[CHB][hapmap]
rs7001699	0.91[CHB][hapmap]
rs7016268	0.91[CHB][hapmap]
rs7813508	0.83[CEU][hapmap];0.91[CHB][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs7821560	0.91[CHB][hapmap]
rs7830744	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7836003	0.86[CHB][hapmap]
rs7837251	0.86[CHB][hapmap]
rs7846145	0.86[CHB][hapmap]
rs9643132	0.86[CHB][hapmap]
rs9643143	0.91[CHB][hapmap]

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	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87074600-87078000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:87075000-87078000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:87075200-87077600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:87075200-87078000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:87075200-87078200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:87075400-87077600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:87075600-87077600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:87075600-87078200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:87075600-87078200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:87076000-87078200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:87076200-87078600	Weak transcription	Fetal Lung	lung
12	chr8:87076200-87079400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr8:87076800-87077800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:87076800-87080400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:87076800-87087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:87077200-87078000	Enhancers	Brain Germinal Matrix	brain
17	chr8:87077400-87077600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:87077400-87077600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:87077400-87077600	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:87077400-87077800	Enhancers	Fetal Stomach	stomach
21	chr8:87077400-87078000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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