Variant report

Variant	rs28914817
Chromosome Location	chr17:34197955-34197956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34196970..34199570-chr17:34207098..34208624,2	K562	blood:
2	chr17:34176733..34179011-chr17:34196507..34198482,2	K562	blood:

Variant related genes	Relation type
ENSG00000161570	Chromatin interaction

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]
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]
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
rs28914817	GAS2L2	cis	Heart Left Ventricle	GTEx
rs28914817	GAS2L2	cis	Adipose Subcutaneous	GTEx
rs28914817	GAS2L2	cis	Muscle Skeletal	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34175600-34202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr17:34177200-34202400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:34177400-34198400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:34177800-34198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:34179000-34203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:34180600-34198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:34180800-34202000	Weak transcription	GM12878-XiMat	blood
8	chr17:34183800-34198200	Weak transcription	Pancreas	Pancrea
9	chr17:34185800-34206800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:34186600-34198400	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:34186800-34201600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:34191400-34198000	Weak transcription	Primary T cells from cord blood	blood
13	chr17:34192200-34218000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:34192400-34198000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:34192400-34213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:34192600-34198200	Weak transcription	Spleen	Spleen
17	chr17:34193600-34198000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr17:34193800-34198000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:34193800-34198200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr17:34193800-34198200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr17:34193800-34198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:34193800-34198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:34193800-34198200	Weak transcription	Adipose Nuclei	Adipose
24	chr17:34193800-34198200	Weak transcription	HUVEC	blood vessel
25	chr17:34193800-34198200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr17:34193800-34198400	Weak transcription	Placenta	Placenta
27	chr17:34193800-34201600	Weak transcription	HSMMtube	muscle
28	chr17:34194000-34205800	Weak transcription	K562	blood
29	chr17:34197800-34198200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:34197800-34202400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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