Variant report

Variant	rs8076465
Chromosome Location	chr17:66513025-66513026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66507070..66510931-chr17:66511371..66513422,6	K562	blood:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10468445	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286558	0.82[CHB][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302230	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302231	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521534	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2907373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2907374	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952278	0.86[YRI][hapmap]
rs4265886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561532	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501512	0.86[YRI][hapmap]
rs7207491	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7217296	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219227	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222188	0.80[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8066131	0.80[CEU][hapmap];0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932935	chr17:66511434-66518806	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv933839	chr17:66511434-66518903	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8076465	PRKAR1A	cis	parietal	SCAN
rs8076465	WIPI1	cis	multi-tissue	Pritchard
rs8076465	CD79B	cis	cerebellum	SCAN
rs8076465	PRKAR1A	cis	multi-tissue	Pritchard
rs8076465	WIPI1	cis	parietal	SCAN
rs8076465	ABCA8	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66507400-66513600	Active TSS	Right Ventricle	heart
2	chr17:66509600-66513400	Weak transcription	Gastric	stomach
3	chr17:66509600-66513600	Weak transcription	Esophagus	oesophagus
4	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
5	chr17:66509800-66514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:66510000-66513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:66510200-66513400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:66511200-66513200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr17:66511200-66513400	Weak transcription	Fetal Intestine Small	intestine
10	chr17:66511200-66514000	Strong transcription	K562	blood
11	chr17:66511200-66514200	Strong transcription	Placenta	Placenta
12	chr17:66511200-66515400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr17:66511200-66516800	Strong transcription	Fetal Thymus	thymus
14	chr17:66511400-66513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:66511400-66513800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:66511400-66514200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:66511400-66514200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr17:66511400-66514200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:66511400-66514600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:66511400-66514800	Strong transcription	Dnd41	blood
21	chr17:66511400-66515000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr17:66511400-66516200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:66511400-66516400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr17:66511400-66516600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr17:66511600-66513200	Weak transcription	Stomach Mucosa	stomach
26	chr17:66511600-66513200	Genic enhancers	NHDF-Ad	bronchial
27	chr17:66511600-66513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:66511600-66514200	Genic enhancers	HepG2	liver
29	chr17:66511600-66514600	Strong transcription	Primary B cells from cord blood	blood
30	chr17:66511600-66514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:66511600-66515200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:66511600-66516400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:66511600-66516400	Strong transcription	A549	lung
34	chr17:66511600-66516800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:66511800-66513200	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr17:66511800-66513200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:66511800-66513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:66511800-66513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:66511800-66513400	Weak transcription	Aorta	Aorta
42	chr17:66511800-66513400	Weak transcription	Fetal Stomach	stomach
43	chr17:66511800-66513400	Weak transcription	Psoas Muscle	Psoas
44	chr17:66511800-66513400	Strong transcription	GM12878-XiMat	blood
45	chr17:66511800-66513600	Weak transcription	Left Ventricle	heart
46	chr17:66511800-66513600	Weak transcription	Lung	lung
47	chr17:66511800-66513600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr17:66511800-66513600	Weak transcription	Right Atrium	heart
49	chr17:66511800-66513800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:66511800-66513800	Genic enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links