Variant report

Variant	rs55915639
Chromosome Location	chr17:34175300-34175301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34168000..34172088-chr17:34173812..34175536,3	K562	blood:
2	chr17:34174331..34176212-chr17:34179934..34181767,2	K562	blood:

Variant related genes	Relation type
ENSG00000172660	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	0.81[ASN][1000 genomes]
rs2072667	0.83[AMR][1000 genomes]
rs2242596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2242597	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280783	0.82[ASN][1000 genomes]
rs2280786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.93[ASN][1000 genomes]
rs28914816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28914817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28914819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4251700	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4251739	1.00[EUR][1000 genomes];0.97[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];0.98[ASN][1000 genomes]
rs55792948	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55799023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55833673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55846484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55906604	1.00[AFR][1000 genomes];0.89[EUR][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];0.98[ASN][1000 genomes]
rs56135703	1.00[AFR][1000 genomes]
rs56170514	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56181735	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56221144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56262662	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[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];0.92[ASN][1000 genomes]
rs56382694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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];0.97[ASN][1000 genomes]
rs9901469	0.81[ASN][1000 genomes]
rs9907320	0.81[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55915639	GAS2L2	cis	Muscle Skeletal	GTEx
rs55915639	GAS2L2	cis	Adipose Subcutaneous	GTEx
rs55915639	GAS2L2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34138600-34180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:34138800-34184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:34139200-34184200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:34139400-34177600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:34141600-34177400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:34142000-34175800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:34142000-34177600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:34142400-34177600	Strong transcription	Fetal Thymus	thymus
9	chr17:34142400-34178200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:34142600-34175600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr17:34142600-34177400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:34142600-34180400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:34142800-34178600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr17:34142800-34180800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:34142800-34181000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:34143000-34177400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr17:34143000-34177400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr17:34144000-34175600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:34144000-34180000	Strong transcription	HSMM	muscle
20	chr17:34144800-34175800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr17:34144800-34178600	Strong transcription	Adipose Nuclei	Adipose
22	chr17:34145000-34177600	Strong transcription	Dnd41	blood
23	chr17:34145200-34177400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr17:34145800-34175600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr17:34145800-34176400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:34145800-34176400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:34146000-34176400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:34146400-34177600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:34146600-34176400	Strong transcription	HUVEC	blood vessel
30	chr17:34147000-34175600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:34147800-34177800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:34148200-34178800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:34152600-34178800	Weak transcription	Fetal Heart	heart
34	chr17:34154400-34176800	Strong transcription	Fetal Brain Female	brain
35	chr17:34156600-34177400	Strong transcription	Primary B cells from cord blood	blood
36	chr17:34158000-34180400	Strong transcription	A549	lung
37	chr17:34158400-34180200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:34159200-34177400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:34159800-34177400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:34160200-34176200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:34160600-34177600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:34160600-34177800	Strong transcription	Placenta	Placenta
43	chr17:34160800-34180200	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:34161800-34175400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr17:34161800-34186200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:34162000-34175400	Strong transcription	Hela-S3	cervix
47	chr17:34162000-34178600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr17:34162200-34175400	Strong transcription	Fetal Kidney	kidney
49	chr17:34162200-34177400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr17:34162400-34175600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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