Variant report

Variant	rs56111312
Chromosome Location	chr17:34223327-34223328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2072667	0.83[AMR][1000 genomes]
rs2242596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242597	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280783	0.83[ASN][1000 genomes]
rs2280786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526331	0.89[EUR][1000 genomes]
rs2702958	0.89[EUR][1000 genomes]
rs2735499	0.89[EUR][1000 genomes]
rs28914802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28914816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251700	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4251739	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55680144	0.89[EUR][1000 genomes]
rs55781042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792948	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55799023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55846484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906604	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55915639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55951822	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56029903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077005	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56135703	1.00[AFR][1000 genomes]
rs56170514	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56181735	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56221144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56262662	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56305516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56382694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61737011	0.83[AMR][1000 genomes]
rs62078115	0.83[AMR][1000 genomes]
rs72483217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs56111312	GAS2L2	cis	Muscle Skeletal	GTEx
rs56111312	GAS2L2	cis	Heart Left Ventricle	GTEx
rs56111312	GAS2L2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34217600-34225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:34217600-34225800	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:34217600-34227600	Weak transcription	NH-A	brain
4	chr17:34218400-34224800	Weak transcription	Dnd41	blood
5	chr17:34218400-34227600	Weak transcription	Fetal Intestine Small	intestine
6	chr17:34219600-34224400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:34219600-34225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:34219600-34225000	Weak transcription	NHEK	skin
9	chr17:34219600-34227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:34221600-34224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:34222200-34223400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:34222200-34223600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr17:34222200-34223600	Enhancers	Osteobl	bone
14	chr17:34222200-34224000	Enhancers	Placenta	Placenta
15	chr17:34222400-34223400	Enhancers	Duodenum Mucosa	Duodenum
16	chr17:34222400-34224000	Enhancers	Primary hematopoietic stem cells	blood
17	chr17:34222400-34224000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:34222400-34224000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr17:34222400-34224400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:34222400-34230200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:34222600-34223400	Enhancers	K562	blood
22	chr17:34222600-34223600	Enhancers	Primary T cells from cord blood	blood
23	chr17:34222600-34223600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:34222600-34223800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:34222600-34227200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr17:34223000-34223400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr17:34223000-34223800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:34223000-34223800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:34223000-34223800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr17:34223000-34224400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:34223000-34230400	Enhancers	Fetal Thymus	thymus
32	chr17:34223200-34223400	Enhancers	Primary B cells from peripheral blood	blood
33	chr17:34223200-34223400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr17:34223200-34223400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr17:34223200-34223400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:34223200-34223400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr17:34223200-34223400	Enhancers	HSMMtube	muscle
38	chr17:34223200-34223600	Enhancers	Thymus	Thymus
39	chr17:34223200-34223600	Flanking Active TSS	GM12878-XiMat	blood
40	chr17:34223200-34227600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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