Variant report

Variant	rs11867767
Chromosome Location	chr17:66515322-66515323
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	chr17:66509415..66511474-chr17:66513629..66516121,3	K562	blood:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11077609	0.86[JPT][hapmap]
rs2286556	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286557	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302234	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2907375	0.84[ASN][1000 genomes]
rs2907387	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2952270	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952272	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952273	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952274	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952317	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56278628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11867767	PRKAR1A	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
2	chr17:66511200-66515400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr17:66511200-66516800	Strong transcription	Fetal Thymus	thymus
4	chr17:66511400-66516200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:66511400-66516400	Strong transcription	Primary hematopoietic stem cells	blood
6	chr17:66511400-66516600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr17:66511600-66516400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:66511600-66516400	Strong transcription	A549	lung
9	chr17:66511600-66516800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:66511800-66515600	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr17:66511800-66516000	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr17:66511800-66516000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:66511800-66516000	Strong transcription	HSMMtube	muscle
16	chr17:66511800-66516200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:66511800-66516200	Strong transcription	Hela-S3	cervix
18	chr17:66511800-66516400	Strong transcription	NH-A	brain
19	chr17:66511800-66516600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:66511800-66516600	Strong transcription	NHEK	skin
21	chr17:66511800-66518800	Weak transcription	Small Intestine	intestine
22	chr17:66511800-66522200	Weak transcription	Fetal Brain Male	brain
23	chr17:66511800-66531600	Strong transcription	Fetal Intestine Large	intestine
24	chr17:66511800-66536600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:66511800-66537000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr17:66511800-66537800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:66512000-66516600	Strong transcription	HUVEC	blood vessel
28	chr17:66512000-66530000	Strong transcription	HSMM	muscle
29	chr17:66512600-66516600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:66512800-66516600	Strong transcription	Primary T cells from cord blood	blood
31	chr17:66513000-66515400	Genic enhancers	Liver	Liver
32	chr17:66513000-66515800	Strong transcription	Osteobl	bone
33	chr17:66513000-66516200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:66513000-66516200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:66513000-66516200	Strong transcription	Brain Substantia Nigra	brain
36	chr17:66513000-66516400	Strong transcription	Fetal Brain Female	brain
37	chr17:66513200-66515400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:66513200-66516000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:66513200-66516200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:66513200-66516400	Strong transcription	Thymus	Thymus
41	chr17:66513200-66528600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr17:66513200-66533000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr17:66513400-66515600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:66513400-66515600	Genic enhancers	Psoas Muscle	Psoas
45	chr17:66513400-66519200	Strong transcription	Fetal Stomach	stomach
46	chr17:66513600-66516400	Genic enhancers	Left Ventricle	heart
47	chr17:66513600-66516400	Enhancers	Right Atrium	heart
48	chr17:66513800-66515400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:66513800-66516000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:66513800-66516200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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