Variant report

Variant	rs6980508
Chromosome Location	chr8:124549813-124549814
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124548466..124550592-chr8:124675218..124677028,2	MCF-7	breast:
2	chr8:124525228..124528986-chr8:124549190..124552536,4	MCF-7	breast:
3	chr8:124547880..124549837-chr8:124702727..124704523,2	MCF-7	breast:
4	chr8:124546333..124550702-chr8:124551890..124554582,6	K562	blood:
5	chr8:124549104..124552059-chr8:124779314..124781040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10113238	0.86[ASN][1000 genomes]
rs2294090	0.88[ASN][1000 genomes]
rs4436105	0.89[ASN][1000 genomes]
rs57111244	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs60841063	0.83[AFR][1000 genomes]
rs72709034	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7460236	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124533800-124552000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:124538400-124552200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:124542800-124550400	Weak transcription	GM12878-XiMat	blood
4	chr8:124542800-124552400	Weak transcription	Hela-S3	cervix
5	chr8:124544400-124550200	Weak transcription	Colonic Mucosa	Colon
6	chr8:124544600-124550400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:124544600-124550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:124544600-124550600	Weak transcription	Pancreas	Pancrea
9	chr8:124544600-124551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:124544600-124552200	Weak transcription	Gastric	stomach
11	chr8:124544800-124550400	Weak transcription	Lung	lung
12	chr8:124544800-124552200	Weak transcription	Liver	Liver
13	chr8:124545000-124550000	Weak transcription	Placenta	Placenta
14	chr8:124545000-124552000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:124545200-124552200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:124545400-124550400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:124545400-124551400	Weak transcription	Fetal Intestine Large	intestine
18	chr8:124546000-124550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:124546200-124550400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:124546200-124550800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:124546200-124552000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr8:124546400-124551800	Enhancers	Primary T cells from cord blood	blood
23	chr8:124546800-124550400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:124546800-124550800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:124547000-124550200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:124547000-124550600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:124547200-124550000	Active TSS	Stomach Smooth Muscle	stomach
28	chr8:124547200-124550400	Active TSS	Colon Smooth Muscle	Colon
29	chr8:124547400-124550400	Weak transcription	Fetal Stomach	stomach
30	chr8:124547600-124550800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr8:124547600-124552000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:124547800-124550400	Weak transcription	Small Intestine	intestine
33	chr8:124548000-124550200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:124548200-124550400	Active TSS	Right Atrium	heart
35	chr8:124548200-124552200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:124548200-124552600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:124548400-124550000	Enhancers	HSMM	muscle
38	chr8:124548400-124550400	Active TSS	Aorta	Aorta
39	chr8:124548400-124550800	Enhancers	NHDF-Ad	bronchial
40	chr8:124548600-124550800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:124548600-124551000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:124548600-124551200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr8:124548600-124551200	Enhancers	Stomach Mucosa	stomach
44	chr8:124548600-124551200	Flanking Active TSS	Osteobl	bone
45	chr8:124548600-124551600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:124548600-124552000	Enhancers	NHEK	skin
47	chr8:124548600-124554000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr8:124548800-124550200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:124548800-124550800	Enhancers	A549	lung
50	chr8:124548800-124554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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