Variant report

Variant	rs8078319
Chromosome Location	chr17:38629215-38629216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38627597..38631126-chr17:38634804..38638416,4	K562	blood:
2	chr17:38626735..38629399-chr17:38631945..38633834,3	MCF-7	breast:
3	chr17:38617634..38619166-chr17:38628984..38631978,2	MCF-7	breast:
4	chr17:38603659..38605432-chr17:38628580..38630648,2	MCF-7	breast:
5	chr17:38598950..38601865-chr17:38628888..38632301,4	MCF-7	breast:
6	chr17:38598427..38603183-chr17:38627636..38631159,5	K562	blood:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10153265	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11078946	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078947	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11871535	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17472276	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs56291600	0.94[EUR][1000 genomes]
rs72819635	0.97[EUR][1000 genomes]
rs72819636	0.97[EUR][1000 genomes]
rs72819638	0.97[EUR][1000 genomes]
rs72819640	1.00[EUR][1000 genomes]
rs72819643	1.00[EUR][1000 genomes]
rs72819648	0.94[EUR][1000 genomes]
rs72819651	0.81[EUR][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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38619200-38632000	Weak transcription	Right Atrium	heart
2	chr17:38620600-38632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:38626400-38629800	Enhancers	NHEK	skin
4	chr17:38626600-38630000	Enhancers	HMEC	breast
5	chr17:38626600-38631600	Enhancers	Fetal Stomach	stomach
6	chr17:38627000-38633000	Enhancers	Rectal Smooth Muscle	rectum
7	chr17:38627200-38631800	Enhancers	Placenta	Placenta
8	chr17:38627200-38631800	Enhancers	Hela-S3	cervix
9	chr17:38627200-38632000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:38627200-38632400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr17:38627200-38633000	Enhancers	Colon Smooth Muscle	Colon
12	chr17:38627200-38633400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:38627200-38633400	Enhancers	Ovary	ovary
14	chr17:38627400-38630000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr17:38627400-38633200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr17:38627400-38646200	Weak transcription	Gastric	stomach
17	chr17:38627600-38630800	Weak transcription	Spleen	Spleen
18	chr17:38627600-38632800	Enhancers	Liver	Liver
19	chr17:38627800-38629600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:38627800-38629800	Weak transcription	Fetal Intestine Large	intestine
21	chr17:38627800-38630800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:38627800-38630800	Enhancers	A549	lung
23	chr17:38627800-38631000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:38627800-38631400	Weak transcription	Fetal Lung	lung
25	chr17:38628000-38630400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr17:38628000-38630600	Weak transcription	K562	blood
27	chr17:38628200-38630600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:38628400-38629400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:38628400-38630200	Enhancers	Esophagus	oesophagus
30	chr17:38628400-38630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:38628400-38631000	Weak transcription	Fetal Intestine Small	intestine
32	chr17:38628600-38630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:38628600-38632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:38628800-38629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:38628800-38631800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:38628800-38632000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:38628800-38632200	Weak transcription	NH-A	brain
38	chr17:38628800-38636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:38629000-38629400	Enhancers	Stomach Smooth Muscle	stomach
40	chr17:38629000-38630000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:38629000-38630800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr17:38629000-38631800	Weak transcription	NHLF	lung
43	chr17:38629000-38631800	Weak transcription	Osteobl	bone
44	chr17:38629000-38632000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:38629200-38629400	Enhancers	NHDF-Ad	bronchial
46	chr17:38629200-38630000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:38629200-38630000	Bivalent Enhancer	HepG2	liver
48	chr17:38629200-38632800	Enhancers	Stomach Mucosa	stomach

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