Variant report

Variant	rs56382694
Chromosome Location	chr17:34127923-34127924
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34121512..34124948-chr17:34126403..34130533,5	K562	blood:
2	chr17:34092527..34095992-chr17:34125628..34128748,3	K562	blood:
3	chr17:34121512..34125542-chr17:34125807..34130533,7	K562	blood:
4	chr17:34107060..34109022-chr17:34127113..34129378,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129270	Chromatin interaction

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

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

rs_ID	r²[population]
rs10451309	0.92[ASN][1000 genomes]
rs2242596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2242597	1.00[EUR][1000 genomes]
rs2280786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.82[ASN][1000 genomes]
rs28914816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28914817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28914819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3826454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4251700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251704	0.91[ASN][1000 genomes]
rs4251710	0.91[ASN][1000 genomes]
rs4251739	1.00[EUR][1000 genomes];0.92[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];0.87[ASN][1000 genomes]
rs55792948	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55799023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55833673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55846484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.88[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];0.87[ASN][1000 genomes]
rs56135703	1.00[AFR][1000 genomes]
rs56170514	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56181735	1.00[EUR][1000 genomes]
rs56221144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56262662	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[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];0.97[ASN][1000 genomes]
rs60040900	0.87[ASN][1000 genomes]
rs62078115	0.83[AMR][1000 genomes]
rs72483217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9901469	0.92[ASN][1000 genomes]
rs9907320	0.92[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs56382694	GAS2L2	cis	Adipose Subcutaneous	GTEx
rs56382694	GAS2L2	cis	Heart Left Ventricle	GTEx
rs56382694	GAS2L2	cis	Muscle Skeletal	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34125600-34129400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr17:34126200-34129000	Enhancers	Brain Hippocampus Middle	brain
3	chr17:34126200-34129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:34126200-34129200	Enhancers	Fetal Heart	heart
5	chr17:34126400-34129200	Enhancers	Colon Smooth Muscle	Colon
6	chr17:34126400-34129200	Enhancers	Rectal Smooth Muscle	rectum
7	chr17:34126600-34128000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:34126600-34128600	Enhancers	Stomach Smooth Muscle	stomach
9	chr17:34126600-34129000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:34126600-34129200	Enhancers	Adipose Nuclei	Adipose
11	chr17:34126600-34129200	Enhancers	Brain Anterior Caudate	brain
12	chr17:34126600-34129200	Enhancers	Brain Germinal Matrix	brain
13	chr17:34126600-34129200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr17:34126600-34129200	Enhancers	Fetal Brain Male	brain
15	chr17:34126600-34129200	Enhancers	Fetal Muscle Leg	muscle
16	chr17:34126600-34129200	Enhancers	Fetal Stomach	stomach
17	chr17:34126600-34129200	Enhancers	HSMMtube	muscle
18	chr17:34126800-34128200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:34126800-34128400	Enhancers	HUVEC	blood vessel
20	chr17:34126800-34128600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr17:34126800-34129000	Enhancers	Fetal Lung	lung
22	chr17:34126800-34129000	Enhancers	HMEC	breast
23	chr17:34126800-34129000	Enhancers	HSMM	muscle
24	chr17:34126800-34129200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:34126800-34129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:34126800-34129200	Enhancers	Brain Substantia Nigra	brain
27	chr17:34126800-34129200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr17:34126800-34130800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr17:34126800-34132000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:34127000-34128000	Enhancers	Fetal Brain Female	brain
31	chr17:34127000-34128600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr17:34127000-34128800	Enhancers	Fetal Muscle Trunk	muscle
33	chr17:34127000-34129000	Enhancers	Spleen	Spleen
34	chr17:34127000-34129200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr17:34127000-34129200	Enhancers	Colonic Mucosa	Colon
36	chr17:34127000-34129200	Enhancers	Esophagus	oesophagus
37	chr17:34127000-34129200	Enhancers	Left Ventricle	heart
38	chr17:34127000-34129400	Enhancers	Lung	lung
39	chr17:34127000-34130000	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:34127000-34135400	Weak transcription	Liver	Liver
41	chr17:34127200-34129000	Enhancers	Right Ventricle	heart
42	chr17:34127200-34129000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr17:34127200-34129000	Enhancers	NH-A	brain
44	chr17:34127200-34129200	Enhancers	Placenta	Placenta
45	chr17:34127200-34130200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr17:34127200-34135000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:34127400-34128400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:34127400-34128400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:34127400-34129200	Enhancers	Primary B cells from peripheral blood	blood
50	chr17:34127400-34129200	Enhancers	Primary T helper cells PMA-I stimulated	--

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