Variant report

Variant	rs62512702
Chromosome Location	chr8:61515819-61515820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62510252	1.00[AMR][1000 genomes]
rs62524908	1.00[AMR][1000 genomes]
rs62524913	1.00[AMR][1000 genomes]
rs62524949	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
2	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
4	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:61495600-61516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:61495600-61517000	Weak transcription	Pancreas	Pancrea
8	chr8:61495600-61517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:61495600-61517600	Weak transcription	Spleen	Spleen
10	chr8:61496800-61517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:61498200-61517200	Weak transcription	Gastric	stomach
12	chr8:61499400-61516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
14	chr8:61503400-61517200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr8:61504000-61517000	Strong transcription	Fetal Thymus	thymus
16	chr8:61504400-61516600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:61504400-61517200	Strong transcription	Adipose Nuclei	Adipose
18	chr8:61506000-61516800	Weak transcription	Small Intestine	intestine
19	chr8:61506000-61517000	Weak transcription	Esophagus	oesophagus
20	chr8:61506000-61523200	Weak transcription	Fetal Heart	heart
21	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:61506200-61516200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:61506200-61517200	Weak transcription	Aorta	Aorta
24	chr8:61506200-61517200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:61506400-61532400	Weak transcription	NHLF	lung
26	chr8:61506600-61517400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:61506800-61517600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:61506800-61517600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:61507600-61517400	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:61508000-61521600	Weak transcription	NHEK	skin
31	chr8:61508600-61516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:61508800-61516400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
34	chr8:61510200-61516400	Strong transcription	Liver	Liver
35	chr8:61510400-61517600	Strong transcription	HSMM	muscle
36	chr8:61511800-61517000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:61511800-61517200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:61512000-61517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:61512000-61518200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:61512200-61516200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr8:61512400-61519600	Strong transcription	Osteobl	bone
42	chr8:61512400-61526200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:61512600-61516400	Strong transcription	Primary T cells from cord blood	blood
44	chr8:61512600-61516600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:61512600-61517400	Strong transcription	Fetal Intestine Large	intestine
46	chr8:61512600-61518200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:61512600-61518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:61512600-61521800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:61512800-61516000	Strong transcription	NHDF-Ad	bronchial
50	chr8:61512800-61517000	Strong transcription	Duodenum Mucosa	Duodenum

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