Variant report

Variant	rs1996863
Chromosome Location	chr8:8460983-8460984
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	chr8:8458941..8461219-chr8:8461272..8463355,2	MCF-7	breast:
2	chr8:8458349..8461087-chr8:8498187..8500312,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10088224	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10094110	0.85[EUR][1000 genomes]
rs10097682	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10099072	0.83[EUR][1000 genomes]
rs10107419	0.84[EUR][1000 genomes]
rs10108056	0.82[CEU][hapmap]
rs10110074	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10113481	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10113746	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1115138	0.83[JPT][hapmap]
rs11250215	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11776072	0.83[EUR][1000 genomes]
rs11777726	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11784987	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11785251	0.85[EUR][1000 genomes]
rs11786428	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11786469	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11787033	0.95[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11787206	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12335155	0.83[ASN][1000 genomes]
rs13328395	0.85[EUR][1000 genomes]
rs17154284	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154299	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17154302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154339	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154351	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17154363	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154381	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17154405	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154423	0.97[EUR][1000 genomes]
rs17154449	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154465	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17154500	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154536	0.83[ASN][1000 genomes]
rs1949718	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2409047	0.95[EUR][1000 genomes]
rs2409049	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28391100	0.85[EUR][1000 genomes]
rs28415885	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28496027	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28790396	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28854567	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2948588	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4392894	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657862	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55873545	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56181969	0.85[EUR][1000 genomes]
rs56268421	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601714	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990687	0.85[EUR][1000 genomes]
rs6997360	0.90[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs7001360	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7005348	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7008986	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7009630	0.81[EUR][1000 genomes]
rs7017027	0.89[CEU][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73504421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73506223	0.94[EUR][1000 genomes]
rs73506224	0.94[EUR][1000 genomes]
rs73506229	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73506234	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73506253	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73506256	0.88[EUR][1000 genomes]
rs73506257	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73506263	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73508132	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73662141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812343	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812973	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822534	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs7839401	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840024	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9987311	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9987367	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv890334	chr8:8328101-8471348	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv890336	chr8:8396676-8500562	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:8458200-8467000	Weak transcription	Small Intestine	intestine
2	chr8:8458400-8461200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:8458800-8466800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:8459000-8467600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:8459000-8467800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:8459200-8463400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:8459400-8461200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:8459400-8468000	Weak transcription	Placenta	Placenta
9	chr8:8459600-8463600	Enhancers	A549	lung
10	chr8:8459600-8463600	Weak transcription	HMEC	breast
11	chr8:8459600-8464000	Weak transcription	NHEK	skin
12	chr8:8459600-8467800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:8459600-8468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:8459600-8468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:8459600-8468800	Weak transcription	Pancreas	Pancrea
16	chr8:8459800-8464000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:8459800-8467400	Weak transcription	HUVEC	blood vessel
18	chr8:8460000-8463400	Weak transcription	Hela-S3	cervix
19	chr8:8460000-8469200	Weak transcription	Right Atrium	heart
20	chr8:8460000-8470200	Weak transcription	Left Ventricle	heart
21	chr8:8460200-8461000	Enhancers	Fetal Lung	lung

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