Variant report

Variant	rs6980873
Chromosome Location	chr8:42761601-42761602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42755430..42757065-chr8:42759918..42762355,2	K562	blood:
2	chr8:42760280..42764060-chr8:42770544..42773563,4	K562	blood:
3	chr8:42750904..42753819-chr8:42758473..42763299,6	MCF-7	breast:
4	chr8:42761584..42764577-chr8:42775485..42778471,2	K562	blood:
5	chr8:42759920..42762712-chr8:42767781..42769964,2	K562	blood:
6	chr8:42761435..42764060-chr8:42771198..42773563,2	K562	blood:
7	chr8:42761212..42763212-chr8:42768042..42769964,2	K562	blood:

Variant related genes	Relation type
ENSG00000266044	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction

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

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

rs_ID	r²[population]
rs11986347	1.00[AMR][1000 genomes]
rs16891647	0.85[MKK][hapmap]
rs6651365	1.00[AMR][1000 genomes]
rs7000889	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	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
3	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42761800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:42753600-42764400	Weak transcription	Placenta	Placenta
3	chr8:42753600-42764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:42753600-42764600	Weak transcription	Lung	lung
5	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
8	chr8:42754000-42763400	Weak transcription	HSMMtube	muscle
9	chr8:42754000-42764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:42754000-42764600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:42754000-42768400	Weak transcription	Fetal Kidney	kidney
12	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:42754000-42771200	Weak transcription	Small Intestine	intestine
15	chr8:42754000-42771800	Weak transcription	Aorta	Aorta
16	chr8:42754000-42772000	Weak transcription	Colonic Mucosa	Colon
17	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
18	chr8:42754200-42762000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:42754200-42762400	Weak transcription	HMEC	breast
20	chr8:42754200-42764800	Weak transcription	NH-A	brain
21	chr8:42754200-42768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:42754200-42771000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:42754200-42771400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:42754400-42762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:42754400-42762800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:42754400-42765200	Weak transcription	Osteobl	bone
28	chr8:42754400-42772000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:42754600-42762400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:42754600-42771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:42754600-42772000	Weak transcription	Ovary	ovary
33	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
34	chr8:42754800-42762000	Weak transcription	HUVEC	blood vessel
35	chr8:42754800-42764400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:42755000-42762200	Weak transcription	HSMM	muscle
38	chr8:42755000-42762400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:42755000-42764000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:42755000-42764600	Weak transcription	NHEK	skin
41	chr8:42755000-42766200	Weak transcription	Fetal Stomach	stomach
42	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
43	chr8:42755200-42762600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:42755400-42761800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:42755400-42762200	Weak transcription	NHDF-Ad	bronchial
46	chr8:42755400-42762600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:42755400-42765600	Weak transcription	Fetal Lung	lung
48	chr8:42755400-42765800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:42755800-42764800	Weak transcription	Liver	Liver
50	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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