Variant report

Variant	rs2087494
Chromosome Location	chr8:48417732-48417733
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
2	chr8:48417465..48419958-chr8:48587324..48588844,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10504061	0.85[AMR][1000 genomes]
rs11992284	1.00[AMR][1000 genomes]
rs11998024	1.00[AMR][1000 genomes]
rs11998292	0.85[AMR][1000 genomes]
rs2087655	0.83[AMR][1000 genomes]
rs41528455	0.83[AMR][1000 genomes]
rs61735903	0.83[AMR][1000 genomes]
rs6996090	0.83[AMR][1000 genomes]
rs7001666	0.83[AMR][1000 genomes]
rs7009817	0.83[AMR][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	chr8:48397800-48418200	Weak transcription	Dnd41	blood
5	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:48404800-48421200	Weak transcription	Lung	lung
9	chr8:48407800-48418600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:48410600-48420800	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:48410800-48421600	Weak transcription	HSMM	muscle
13	chr8:48411000-48420600	Weak transcription	Fetal Brain Male	brain
14	chr8:48411400-48420000	Weak transcription	HMEC	breast
15	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
16	chr8:48411800-48419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:48411800-48420600	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:48411800-48423400	Weak transcription	A549	lung
19	chr8:48411800-48423400	Weak transcription	Hela-S3	cervix
20	chr8:48411800-48423800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:48412000-48419600	Weak transcription	HSMMtube	muscle
22	chr8:48412000-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:48412000-48421600	Weak transcription	Fetal Lung	lung
24	chr8:48416000-48419800	Weak transcription	Left Ventricle	heart
25	chr8:48416800-48421800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:48416800-48423800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:48417400-48417800	Enhancers	Spleen	Spleen
28	chr8:48417400-48418000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr8:48417400-48418400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:48417400-48418400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:48417400-48418400	ZNF genes & repeats	Fetal Stomach	stomach
32	chr8:48417400-48418400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:48417400-48418800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:48417600-48417800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:48417600-48418200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:48417600-48418200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:48417600-48418200	Strong transcription	Gastric	stomach
38	chr8:48417600-48418400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:48417600-48418400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:48417600-48418600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr8:48417600-48418800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr8:48417600-48419400	Enhancers	Primary neutrophils fromperipheralblood	blood

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