Variant report

Variant	rs8072595
Chromosome Location	chr17:63160236-63160237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63151108..63154306-chr17:63159891..63162115,3	MCF-7	breast:
2	chr17:63160128..63162121-chr17:63168023..63170188,2	K562	blood:
3	chr17:63159589..63162697-chr17:63164587..63167490,3	K562	blood:
4	chr17:63158962..63160565-chr17:63168020..63170468,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61739547	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8067101	1.00[AMR][1000 genomes]
rs8072314	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8072595	GNAQ	trans	lymphoblastoid	seeQTL
rs8072595	MYH10	trans	lymphoblastoid	seeQTL
rs8072595	RASIP1	trans	lymphoblastoid	seeQTL
rs8072595	NPNT	trans	lymphoblastoid	seeQTL
rs8072595	ARHGAP44	trans	lymphoblastoid	seeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:63145800-63167000	Weak transcription	Aorta	Aorta
5	chr17:63150200-63162800	Weak transcription	Fetal Stomach	stomach
6	chr17:63153600-63175400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:63156000-63164400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:63156600-63165600	Weak transcription	Dnd41	blood
9	chr17:63157000-63179800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:63157200-63169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:63159600-63160400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:63159600-63160400	Enhancers	Duodenum Mucosa	Duodenum
13	chr17:63159600-63160400	Enhancers	Stomach Mucosa	stomach
14	chr17:63159600-63160800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:63159600-63161200	Enhancers	GM12878-XiMat	blood
16	chr17:63159600-63161600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:63159600-63162000	Enhancers	K562	blood
18	chr17:63159800-63160400	Enhancers	Brain Anterior Caudate	brain
19	chr17:63159800-63160400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:63159800-63160400	Enhancers	A549	lung
21	chr17:63159800-63160400	Enhancers	NHLF	lung
22	chr17:63159800-63160600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr17:63159800-63160600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:63159800-63160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:63159800-63160600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:63159800-63160600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:63159800-63160600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:63159800-63160600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:63159800-63160600	Enhancers	NHEK	skin
30	chr17:63159800-63160800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr17:63159800-63160800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:63159800-63160800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr17:63159800-63160800	Enhancers	Fetal Thymus	thymus
34	chr17:63159800-63161000	Enhancers	Primary hematopoietic stem cells	blood
35	chr17:63159800-63161400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:63159800-63162800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr17:63160000-63160400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:63160000-63160400	Enhancers	Lung	lung
39	chr17:63160000-63160400	Enhancers	Thymus	Thymus
40	chr17:63160000-63160400	Flanking Active TSS	Hela-S3	cervix
41	chr17:63160000-63160400	Enhancers	HMEC	breast
42	chr17:63160000-63160400	Enhancers	NH-A	brain
43	chr17:63160000-63160600	Enhancers	Primary B cells from cord blood	blood
44	chr17:63160000-63160600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr17:63160000-63160600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:63160000-63160800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:63160000-63160800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr17:63160000-63160800	Enhancers	Primary B cells from peripheral blood	blood
49	chr17:63160000-63160800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:63160000-63160800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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