Variant report

Variant	rs2293789
Chromosome Location	chr17:34217451-34217452
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34216744..34218926-chr17:34220900..34223192,2	MCF-7	breast:
2	chr17:34211391..34213813-chr17:34217158..34219522,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10451309	0.85[JPT][hapmap]
rs2072667	0.83[AMR][1000 genomes]
rs2242596	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280783	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2280786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4251704	1.00[JPT][hapmap]
rs4251710	1.00[JPT][hapmap]
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]
rs56111312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs2293789	GAS2L2	cis	Heart Left Ventricle	GTEx
rs2293789	GAS2L2	cis	Muscle Skeletal	GTEx
rs2293789	GAS2L2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34192200-34218000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:34207400-34219200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:34214200-34223000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:34214800-34221800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr17:34215200-34220000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:34215200-34220200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr17:34215200-34220200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:34215200-34221000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr17:34215400-34220400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr17:34215400-34220600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:34215600-34218200	Enhancers	Thymus	Thymus
12	chr17:34216000-34220000	Enhancers	Fetal Thymus	thymus
13	chr17:34216200-34218800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr17:34216400-34218200	Enhancers	Brain Germinal Matrix	brain
15	chr17:34216400-34219000	Enhancers	GM12878-XiMat	blood
16	chr17:34216600-34217600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr17:34216800-34217600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:34216800-34217600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:34216800-34217600	Enhancers	Fetal Brain Male	brain
20	chr17:34216800-34217600	Enhancers	Fetal Lung	lung
21	chr17:34216800-34217600	Enhancers	Fetal Muscle Leg	muscle
22	chr17:34216800-34217600	Enhancers	Small Intestine	intestine
23	chr17:34216800-34217600	Enhancers	NH-A	brain
24	chr17:34216800-34218000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:34216800-34218000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:34216800-34218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr17:34216800-34218200	Enhancers	Fetal Brain Female	brain
28	chr17:34216800-34218400	Enhancers	Primary T cells from cord blood	blood
29	chr17:34216800-34218400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:34216800-34218400	Enhancers	Fetal Intestine Small	intestine
31	chr17:34216800-34218400	Genic enhancers	Placenta	Placenta
32	chr17:34216800-34218600	Enhancers	K562	blood
33	chr17:34217000-34217600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:34217000-34217600	Enhancers	Duodenum Mucosa	Duodenum
35	chr17:34217000-34217600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr17:34217000-34217600	Enhancers	Fetal Stomach	stomach
37	chr17:34217000-34217600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr17:34217000-34217600	Enhancers	A549	lung
39	chr17:34217000-34217600	Enhancers	HSMMtube	muscle
40	chr17:34217000-34217600	Enhancers	NHEK	skin
41	chr17:34217000-34217600	Enhancers	Osteobl	bone
42	chr17:34217000-34218200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr17:34217000-34218200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr17:34217000-34218200	Enhancers	Lung	lung
45	chr17:34217000-34218400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr17:34217000-34218400	Enhancers	Dnd41	blood
47	chr17:34217200-34217600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr17:34217200-34217600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr17:34217200-34217600	Enhancers	Adipose Nuclei	Adipose
50	chr17:34217200-34217600	Enhancers	Liver	Liver

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