Variant report

Variant	rs8037065
Chromosome Location	chr15:34375818-34375819
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	chr15:34374878..34376788-chr15:34377498..34380301,3	K562	blood:

Variant related genes	Relation type
ENSG00000243094	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10152308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851938	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438470	0.85[ASN][1000 genomes]
rs12441615	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898455	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436922	0.83[CEU][hapmap]
rs16958595	0.84[CHB][hapmap]
rs16958780	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs17817764	0.84[CEU][hapmap]
rs2339373	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705338	0.84[CEU][hapmap]
rs34196590	0.84[ASN][1000 genomes]
rs3764237	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764238	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[ASN][1000 genomes]
rs499167	0.92[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs554303	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs579975	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs60270549	0.81[ASN][1000 genomes]
rs62014675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175933	0.84[CEU][hapmap]
rs7178266	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029344	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs8033335	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8035849	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs9972453	0.84[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8037065	CHRM5	cis	parietal	SCAN
rs8037065	PGBD4	cis	parietal	SCAN
rs8037065	AVEN	cis	lymphoblastoid	seeQTL
rs8037065	CHRM5	cis	cerebellum	SCAN

Chromatin state (count:115 , 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	chr15:34369000-34376000	Weak transcription	Primary T cells from cord blood	blood
10	chr15:34369400-34377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:34369400-34378200	Weak transcription	Esophagus	oesophagus
12	chr15:34369600-34376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:34369600-34378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:34369600-34391600	Weak transcription	NHEK	skin
15	chr15:34370000-34379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:34371000-34376400	Weak transcription	Ovary	ovary
17	chr15:34371000-34377600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:34371800-34376400	Weak transcription	A549	lung
19	chr15:34372000-34378000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:34372800-34376000	Weak transcription	Fetal Lung	lung
21	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
22	chr15:34373400-34378200	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:34373600-34376400	Weak transcription	Thymus	Thymus
24	chr15:34373600-34392400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:34374000-34376400	Weak transcription	Lung	lung
26	chr15:34374000-34377000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:34374200-34376200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:34374200-34376400	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:34374200-34377600	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:34374200-34379600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:34374200-34379600	Weak transcription	HMEC	breast
32	chr15:34374200-34383800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr15:34374200-34392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:34374400-34391600	Weak transcription	Fetal Brain Male	brain
35	chr15:34374600-34376200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:34374600-34376200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:34374600-34376200	Weak transcription	HUVEC	blood vessel
38	chr15:34374600-34382600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr15:34374600-34382600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:34374800-34376400	Weak transcription	Brain Anterior Caudate	brain
41	chr15:34374800-34376400	Weak transcription	Hela-S3	cervix
42	chr15:34374800-34379800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:34374800-34380800	Weak transcription	Pancreas	Pancrea
44	chr15:34374800-34381000	Strong transcription	Fetal Thymus	thymus
45	chr15:34374800-34382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:34374800-34382600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:34374800-34383000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:34374800-34384200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:34374800-34385600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr15:34374800-34391600	Weak transcription	Small Intestine	intestine

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