Variant report

Variant	rs876915
Chromosome Location	chr8:48418631-48418632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
2	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
3	chr8:48417465..48419958-chr8:48587324..48588844,2	MCF-7	breast:
4	chr8:48418430..48420641-chr8:48424490..48426967,2	K562	blood:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction
ENSG00000253330	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10094128	0.83[CEU][hapmap]
rs10957074	0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10957549	0.97[EUR][1000 genomes]
rs10957644	0.98[EUR][1000 genomes]
rs10958058	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1106607	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11775628	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11778548	0.84[EUR][1000 genomes]
rs11782572	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11783141	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs11784823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11785228	0.85[AFR][1000 genomes]
rs12541086	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs12544329	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12549996	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12675378	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12678110	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs12680669	0.82[AFR][1000 genomes]
rs16926260	1.00[YRI][hapmap]
rs16928696	0.94[EUR][1000 genomes]
rs1872840	0.87[EUR][1000 genomes]
rs2129617	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2129618	0.89[EUR][1000 genomes]
rs2130412	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130413	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2171854	1.00[YRI][hapmap]
rs2362554	0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs34099416	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs35235599	0.83[AFR][1000 genomes]
rs4489323	0.85[EUR][1000 genomes]
rs4498545	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs4536257	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4594029	0.82[CEU][hapmap]
rs4608108	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4873106	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs4873293	0.80[AFR][1000 genomes]
rs4873368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873395	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4873399	0.92[EUR][1000 genomes]
rs4873437	0.96[EUR][1000 genomes]
rs4873477	1.00[YRI][hapmap]
rs4873478	0.83[CEU][hapmap]
rs4873507	0.86[EUR][1000 genomes]
rs4873529	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs4873546	0.81[CEU][hapmap]
rs4873565	0.89[EUR][1000 genomes]
rs4873619	0.84[EUR][1000 genomes]
rs55941013	0.93[EUR][1000 genomes]
rs56092229	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62539116	0.91[EUR][1000 genomes]
rs62539144	0.88[EUR][1000 genomes]
rs62539147	0.88[EUR][1000 genomes]
rs62539150	0.86[EUR][1000 genomes]
rs6982620	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6986054	0.82[CEU][hapmap]
rs6987043	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6989917	0.94[EUR][1000 genomes]
rs7002441	1.00[YRI][hapmap]
rs7842068	0.82[CEU][hapmap]
rs902619	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs923499	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
2	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
4	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:48404800-48421200	Weak transcription	Lung	lung
8	chr8:48410600-48420800	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:48410800-48421600	Weak transcription	HSMM	muscle
11	chr8:48411000-48420600	Weak transcription	Fetal Brain Male	brain
12	chr8:48411400-48420000	Weak transcription	HMEC	breast
13	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
14	chr8:48411800-48419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:48411800-48420600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:48411800-48423400	Weak transcription	A549	lung
17	chr8:48411800-48423400	Weak transcription	Hela-S3	cervix
18	chr8:48411800-48423800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:48412000-48419600	Weak transcription	HSMMtube	muscle
20	chr8:48412000-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:48412000-48421600	Weak transcription	Fetal Lung	lung
22	chr8:48416000-48419800	Weak transcription	Left Ventricle	heart
23	chr8:48416800-48421800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:48416800-48423800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:48417400-48418800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:48417600-48418800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr8:48417600-48419400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:48417800-48419400	Weak transcription	Spleen	Spleen
29	chr8:48418200-48418800	ZNF genes & repeats	Dnd41	blood
30	chr8:48418200-48419400	Enhancers	Primary B cells from cord blood	blood
31	chr8:48418200-48419400	Weak transcription	Gastric	stomach
32	chr8:48418200-48419800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:48418400-48419800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:48418400-48420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:48418400-48422600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr8:48418400-48423600	Weak transcription	Fetal Stomach	stomach
37	chr8:48418400-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:48418600-48418800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:48418600-48422000	Enhancers	Fetal Muscle Leg	muscle
41	chr8:48418600-48422600	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:48418600-48423400	Weak transcription	Fetal Muscle Trunk	muscle

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