Variant report

Variant	rs12441615
Chromosome Location	chr15:34392092-34392093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:
2	chr15:34389075..34392114-chr15:34392453..34395895,3	K562	blood:
3	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
4	chr15:34391496..34393371-chr15:34874535..34876931,2	K562	blood:
5	chr15:34389885..34392673-chr15:34392994..34394930,2	MCF-7	breast:
6	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
7	chr15:34390233..34392584-chr15:34504198..34505938,2	K562	blood:

Variant related genes	Relation type
ENSG00000215252	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000128463	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10152308	0.92[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152504	0.92[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851938	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438470	0.85[ASN][1000 genomes]
rs12898455	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958780	0.85[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2339373	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34196590	0.84[ASN][1000 genomes]
rs3764237	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764238	0.85[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs499167	0.84[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs554303	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs579975	0.84[CEU][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs60270549	0.81[ASN][1000 genomes]
rs62014675	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178266	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029344	0.84[CEU][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs8033335	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8035849	0.84[CEU][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs8037065	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]
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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12441615	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
2	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
3	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
4	chr15:34373600-34392400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:34374200-34392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:34375000-34392800	Weak transcription	Fetal Heart	heart
8	chr15:34375000-34393000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:34376000-34392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:34376800-34392400	Weak transcription	Brain Substantia Nigra	brain
11	chr15:34378400-34392400	Weak transcription	NHLF	lung
12	chr15:34378600-34392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:34378600-34392600	Weak transcription	Fetal Kidney	kidney
14	chr15:34378800-34393000	Weak transcription	Lung	lung
15	chr15:34379000-34393000	Weak transcription	Esophagus	oesophagus
16	chr15:34380200-34392800	Weak transcription	HSMMtube	muscle
17	chr15:34380200-34393000	Weak transcription	Ovary	ovary
18	chr15:34380200-34393400	Weak transcription	Gastric	stomach
19	chr15:34380400-34392400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:34381200-34393400	Weak transcription	Pancreas	Pancrea
21	chr15:34382200-34392200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:34382600-34392800	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:34387000-34392600	Weak transcription	Fetal Intestine Small	intestine
24	chr15:34387400-34392200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:34387400-34392400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:34387400-34392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:34387600-34392200	Weak transcription	Primary B cells from cord blood	blood
28	chr15:34387600-34392200	Weak transcription	Adipose Nuclei	Adipose
29	chr15:34387600-34392400	Weak transcription	Fetal Lung	lung
30	chr15:34387600-34392400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:34387600-34392600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr15:34387800-34392200	Weak transcription	A549	lung
33	chr15:34387800-34392200	Weak transcription	HUVEC	blood vessel
34	chr15:34387800-34392600	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:34387800-34392800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:34387800-34392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:34387800-34392800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:34388200-34392200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:34388200-34392600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:34388200-34392800	Weak transcription	NH-A	brain
41	chr15:34388400-34392200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:34388400-34392600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:34388400-34392600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:34388400-34392600	Weak transcription	HSMM	muscle
45	chr15:34388400-34392800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:34388400-34392800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:34388400-34393200	Weak transcription	Placenta	Placenta
48	chr15:34388600-34392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:34388800-34392200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:34388800-34393000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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