Variant report

Variant	rs6989952
Chromosome Location	chr8:66717186-66717187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66714740..66718106-chr8:66754325..66756257,3	K562	blood:
2	chr8:66711708..66716054-chr8:66716303..66719778,4	K562	blood:
3	chr8:66700331..66702852-chr8:66715222..66718861,3	K562	blood:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6980516	1.00[AFR][1000 genomes]
rs6980588	1.00[AFR][1000 genomes]
rs6980746	1.00[AFR][1000 genomes]
rs7001147	1.00[AFR][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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66707800-66720200	Weak transcription	Aorta	Aorta
2	chr8:66711000-66721600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:66711000-66722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:66711800-66717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:66711800-66717400	Weak transcription	Dnd41	blood
6	chr8:66712600-66718000	Weak transcription	Stomach Mucosa	stomach
7	chr8:66713000-66717200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:66713000-66717800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:66713000-66717800	Weak transcription	Fetal Heart	heart
10	chr8:66713000-66717800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:66713000-66718800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:66713200-66717200	Weak transcription	K562	blood
13	chr8:66713200-66717800	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:66713200-66718800	Weak transcription	Psoas Muscle	Psoas
15	chr8:66713200-66719000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:66713200-66720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:66713400-66717400	Weak transcription	HMEC	breast
18	chr8:66713400-66718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:66713400-66720200	Weak transcription	Right Atrium	heart
20	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:66713600-66717200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:66713600-66717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:66713600-66718800	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:66713800-66718800	Weak transcription	Small Intestine	intestine
25	chr8:66713800-66721000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:66714000-66719800	Weak transcription	Brain Angular Gyrus	brain
27	chr8:66714200-66723400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:66714600-66719400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:66714800-66734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:66715000-66720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr8:66715000-66720400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr8:66715200-66718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:66715200-66720000	Weak transcription	Thymus	Thymus
34	chr8:66715400-66723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:66715600-66717800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:66715800-66718000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr8:66716000-66717200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:66716000-66721400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:66716000-66721800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:66716000-66721800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:66716200-66717200	Weak transcription	NHEK	skin
42	chr8:66716200-66717600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:66716200-66717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:66716400-66717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:66716400-66717800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:66716400-66719800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:66716400-66723600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:66716600-66717400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:66716600-66717800	Enhancers	Primary T cells from cord blood	blood

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