Variant report

Variant	rs55792948
Chromosome Location	chr17:34101780-34101781
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34101546..34103557-chr17:34109356..34111620,2	MCF-7	breast:
2	chr17:34101120..34102648-chr17:34132276..34135170,2	MCF-7	breast:
3	chr17:34101663..34103354-chr17:34121215..34124196,2	MCF-7	breast:
4	chr17:34094026..34096970-chr17:34100464..34102783,3	K562	blood:
5	chr17:34098510..34102735-chr17:34135277..34138625,5	MCF-7	breast:
6	chr17:34100630..34103583-chr17:34107031..34108595,2	K562	blood:

Variant related genes	Relation type
ENSG00000129270	Chromatin interaction
ENSG00000267578	Chromatin interaction
ENSG00000172660	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10451309	0.90[ASN][1000 genomes]
rs2242596	0.89[EUR][1000 genomes]
rs2242597	0.89[EUR][1000 genomes]
rs2280786	0.89[EUR][1000 genomes]
rs2280788	0.89[EUR][1000 genomes]
rs2293789	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28914802	0.89[EUR][1000 genomes]
rs28914816	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28914817	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28914819	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3826454	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4251700	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251704	0.86[ASN][1000 genomes]
rs4251710	0.86[ASN][1000 genomes]
rs4251739	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55680144	1.00[EUR][1000 genomes]
rs55781042	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55799023	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55833673	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55846484	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55906604	1.00[EUR][1000 genomes]
rs55915639	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55951822	1.00[EUR][1000 genomes]
rs56029903	0.89[EUR][1000 genomes]
rs56077005	1.00[EUR][1000 genomes]
rs56111312	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56170514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181735	0.89[EUR][1000 genomes]
rs56221144	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56262662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305516	0.89[EUR][1000 genomes]
rs56347933	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56382694	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60040900	0.92[ASN][1000 genomes]
rs72483217	0.89[EUR][1000 genomes]
rs9901469	0.90[ASN][1000 genomes]
rs9907320	0.90[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55792948	GAS2L2	cis	Muscle Skeletal	GTEx
rs55792948	GAS2L2	cis	Heart Left Ventricle	GTEx
rs55792948	GAS2L2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34091800-34101800	Weak transcription	Aorta	Aorta
2	chr17:34091800-34103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:34092000-34101800	Weak transcription	HMEC	breast
4	chr17:34092400-34114200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:34097600-34102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:34098800-34102400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:34098800-34102600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:34098800-34102800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr17:34098800-34102800	Enhancers	Primary hematopoietic stem cells	blood
10	chr17:34098800-34103600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:34099000-34102400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:34099400-34101800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:34099400-34103000	Enhancers	Fetal Thymus	thymus
14	chr17:34099600-34101800	Enhancers	Adipose Nuclei	Adipose
15	chr17:34099600-34101800	Enhancers	Fetal Stomach	stomach
16	chr17:34100000-34102000	Enhancers	Right Ventricle	heart
17	chr17:34100000-34102600	Enhancers	Fetal Heart	heart
18	chr17:34100000-34102800	Enhancers	Fetal Lung	lung
19	chr17:34100000-34103000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr17:34100200-34102600	Enhancers	HSMMtube	muscle
21	chr17:34100200-34103000	Enhancers	Fetal Muscle Leg	muscle
22	chr17:34100400-34101800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:34100400-34102200	Enhancers	Fetal Muscle Trunk	muscle
24	chr17:34100400-34102600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:34100400-34102600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:34100400-34102600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:34100400-34102600	Enhancers	Lung	lung
28	chr17:34100400-34104600	Enhancers	Stomach Mucosa	stomach
29	chr17:34100600-34102000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:34100600-34102000	Enhancers	Fetal Intestine Large	intestine
31	chr17:34100600-34102400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:34100600-34102400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:34100600-34102600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr17:34100600-34102600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr17:34100600-34102800	Enhancers	Brain Anterior Caudate	brain
36	chr17:34100600-34102800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:34100600-34102800	Enhancers	Fetal Intestine Small	intestine
38	chr17:34100600-34102800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr17:34100600-34102800	Enhancers	Right Atrium	heart
40	chr17:34100600-34103200	Enhancers	Duodenum Mucosa	Duodenum
41	chr17:34100800-34101800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:34100800-34101800	Enhancers	Fetal Brain Female	brain
43	chr17:34100800-34102000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr17:34100800-34102200	Enhancers	Placenta	Placenta
45	chr17:34100800-34102200	Enhancers	HSMM	muscle
46	chr17:34100800-34102200	Enhancers	Osteobl	bone
47	chr17:34100800-34102400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:34100800-34102800	Enhancers	Colonic Mucosa	Colon
49	chr17:34100800-34102800	Enhancers	Fetal Brain Male	brain
50	chr17:34100800-34102800	Enhancers	Hela-S3	cervix

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