Variant report

Variant	rs4871528
Chromosome Location	chr8:120712611-120712612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:45931212..45933655-chr8:120711556..120713155,2	MCF-7	breast:
2	chr8:120707984..120709744-chr8:120711269..120714120,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10086913	0.86[JPT][hapmap]
rs10087723	0.91[ASN][1000 genomes]
rs10095282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10096846	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10101278	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs10102038	0.95[ASN][1000 genomes]
rs10103886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10108071	0.86[JPT][hapmap]
rs10109808	0.84[ASN][1000 genomes]
rs10109951	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10110601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10505374	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1055130	0.86[JPT][hapmap]
rs1055131	0.86[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs1055133	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12542706	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12543087	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12707876	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12707880	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13252708	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13253139	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13255420	0.89[ASN][1000 genomes]
rs13255850	0.93[ASN][1000 genomes]
rs13257002	0.86[ASN][1000 genomes]
rs13261032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13262434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13268676	0.82[ASW][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs13270831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13272214	0.95[JPT][hapmap]
rs13272852	0.91[ASN][1000 genomes]
rs14027	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs1433951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1433953	0.94[ASN][1000 genomes]
rs1469755	0.88[ASN][1000 genomes]
rs1567358	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1567359	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16893025	0.97[ASN][1000 genomes]
rs16893027	0.95[ASN][1000 genomes]
rs16893071	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893077	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.87[ASN][1000 genomes]
rs16893101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16893104	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16893109	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16893113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16893140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1828238	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1976575	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2043430	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2043431	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2063282	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2136374	0.85[ASN][1000 genomes]
rs2289011	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs2326377	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.86[ASN][1000 genomes]
rs2326378	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2634	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs28421406	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28486074	0.89[ASN][1000 genomes]
rs28576821	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28634937	0.89[ASN][1000 genomes]
rs28665481	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28711081	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28827321	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34070855	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35449013	0.88[ASN][1000 genomes]
rs35521072	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35660840	0.94[ASN][1000 genomes]
rs35954443	0.84[ASN][1000 genomes]
rs3812463	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs4871577	0.86[JPT][hapmap]
rs4871578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4871595	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4871599	0.81[ASN][1000 genomes]
rs4871629	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4871634	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs4871642	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs4871648	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs62526565	0.85[ASN][1000 genomes]
rs6469841	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469846	0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs6469849	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs6469852	0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs6469853	0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs6983932	0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs6989559	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6989791	0.82[ASW][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs6992632	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6994604	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6997976	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998058	0.81[ASN][1000 genomes]
rs7005200	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7009073	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011974	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7012791	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012857	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7017010	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7017279	0.90[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7813438	0.82[ASW][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7813651	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7813680	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7821501	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7825803	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827482	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7829198	0.86[JPT][hapmap]
rs7829390	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7832755	0.86[JPT][hapmap]
rs7833112	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7833490	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7837213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7837589	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7839110	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7843304	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297603	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297604	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297605	0.86[JPT][hapmap]
rs9693207	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	esv275500	chr8:120709458-120712679	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4871528	DSCC1	cis	parietal	SCAN
rs4871528	DSCC1	cis	cerebellum	SCAN
rs4871528	ATAD2	cis	parietal	SCAN
rs4871528	DEPDC6	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120711000-120713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:120711000-120713600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:120711200-120713000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120711200-120713600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:120711200-120713600	Weak transcription	HUVEC	blood vessel
6	chr8:120711400-120715600	Weak transcription	Placenta	Placenta
7	chr8:120711800-120716000	Weak transcription	Esophagus	oesophagus
8	chr8:120712400-120714200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:120712600-120714200	Enhancers	Adipose Nuclei	Adipose

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