Variant report

Variant	rs3764238
Chromosome Location	chr15:34376176-34376177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34374878..34376788-chr15:34377498..34380301,3	K562	blood:

Variant related genes	Relation type
ENSG00000243094	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10152308	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[ASN][1000 genomes]
rs10152504	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[ASN][1000 genomes]
rs10851938	0.83[ASN][1000 genomes]
rs12438470	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12441615	0.85[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs12898455	0.84[ASN][1000 genomes]
rs16958595	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs16958780	0.84[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2339373	0.84[ASN][1000 genomes]
rs28453263	0.87[ASN][1000 genomes]
rs34196590	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764237	0.84[ASN][1000 genomes]
rs499167	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs554303	0.84[CHB][hapmap]
rs579975	0.84[CHB][hapmap];0.90[CHD][hapmap]
rs59502570	0.81[ASN][1000 genomes]
rs60270549	0.84[ASN][1000 genomes]
rs62014675	0.84[ASN][1000 genomes]
rs62014728	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62014729	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7178266	0.84[ASN][1000 genomes]
rs8029344	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs8033335	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[ASN][1000 genomes]
rs8035849	0.84[CHB][hapmap];0.90[CHD][hapmap]
rs8037065	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[ASN][1000 genomes]
rs8182015	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9972453	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3764238	AVEN	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
4	chr15:34365800-34378000	Weak transcription	HSMMtube	muscle
5	chr15:34368000-34379600	Weak transcription	Fetal Brain Female	brain
6	chr15:34368000-34391600	Weak transcription	Right Ventricle	heart
7	chr15:34368200-34378200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
9	chr15:34369400-34377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:34369400-34378200	Weak transcription	Esophagus	oesophagus
11	chr15:34369600-34376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:34369600-34378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:34369600-34391600	Weak transcription	NHEK	skin
14	chr15:34370000-34379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:34371000-34376400	Weak transcription	Ovary	ovary
16	chr15:34371000-34377600	Weak transcription	Fetal Intestine Small	intestine
17	chr15:34371800-34376400	Weak transcription	A549	lung
18	chr15:34372000-34378000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
20	chr15:34373400-34378200	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:34373600-34376400	Weak transcription	Thymus	Thymus
22	chr15:34373600-34392400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:34374000-34376400	Weak transcription	Lung	lung
24	chr15:34374000-34377000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:34374200-34376200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:34374200-34376400	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:34374200-34377600	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:34374200-34379600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:34374200-34379600	Weak transcription	HMEC	breast
30	chr15:34374200-34383800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:34374200-34392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:34374400-34391600	Weak transcription	Fetal Brain Male	brain
33	chr15:34374600-34376200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:34374600-34376200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:34374600-34376200	Weak transcription	HUVEC	blood vessel
36	chr15:34374600-34382600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr15:34374600-34382600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:34374800-34376400	Weak transcription	Brain Anterior Caudate	brain
39	chr15:34374800-34376400	Weak transcription	Hela-S3	cervix
40	chr15:34374800-34379800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:34374800-34380800	Weak transcription	Pancreas	Pancrea
42	chr15:34374800-34381000	Strong transcription	Fetal Thymus	thymus
43	chr15:34374800-34382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:34374800-34382600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:34374800-34383000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:34374800-34384200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:34374800-34385600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr15:34374800-34391600	Weak transcription	Small Intestine	intestine
49	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr15:34375000-34377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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