Variant report

Variant	rs7821818
Chromosome Location	chr8:62488767-62488768
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62488403..62489962-chr8:62494279..62497109,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12115001	0.83[AMR][1000 genomes]
rs16918879	0.83[AMR][1000 genomes]
rs16927431	0.83[AMR][1000 genomes]
rs16927456	0.83[AMR][1000 genomes]
rs6992793	0.83[AMR][1000 genomes]
rs7816683	0.83[AMR][1000 genomes]
rs9693981	0.83[AMR][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
8	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
9	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
11	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:62458800-62491000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:62464000-62492400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:62464000-62492600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
17	chr8:62464400-62492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:62466600-62490200	Weak transcription	K562	blood
19	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
20	chr8:62467600-62492600	Weak transcription	Spleen	Spleen
21	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
22	chr8:62470800-62491600	Weak transcription	Fetal Brain Female	brain
23	chr8:62473000-62490600	Weak transcription	Fetal Intestine Large	intestine
24	chr8:62474800-62493400	Weak transcription	HMEC	breast
25	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
26	chr8:62476200-62492200	Weak transcription	Brain Germinal Matrix	brain
27	chr8:62479800-62489600	Weak transcription	Thymus	Thymus
28	chr8:62480000-62492600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:62480000-62503600	Weak transcription	NHEK	skin
30	chr8:62480600-62490600	Weak transcription	Psoas Muscle	Psoas
31	chr8:62480800-62493200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:62481000-62494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:62481600-62492600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:62481600-62493000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:62481600-62493400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:62481800-62493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:62485200-62490800	Weak transcription	Gastric	stomach
39	chr8:62485400-62492600	Weak transcription	Esophagus	oesophagus
40	chr8:62487000-62489800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:62487000-62491000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:62487000-62493800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:62487000-62494800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:62487400-62488800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:62487400-62489200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:62487400-62489200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:62487400-62489200	Strong transcription	Lung	lung
48	chr8:62487400-62489200	Strong transcription	Ovary	ovary
49	chr8:62487400-62489200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr8:62487400-62489400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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