Variant report

Variant	rs11634771
Chromosome Location	chr15:34390598-34390599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:34390519-34390613	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34389075..34392114-chr15:34392453..34395895,3	K562	blood:
2	chr15:34389885..34392673-chr15:34392994..34394930,2	MCF-7	breast:
3	chr15:34390233..34392584-chr15:34504198..34505938,2	K562	blood:

Variant related genes	Relation type
PGBD4	TF binding region
ENSG00000182405	Chromatin interaction
ENSG00000134153	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11634415	0.90[EUR][1000 genomes]
rs11634610	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917116	0.80[EUR][1000 genomes]
rs1436922	0.93[EUR][1000 genomes]
rs17817764	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705338	0.90[EUR][1000 genomes]
rs34448088	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62014670	1.00[ASN][1000 genomes]
rs62014671	1.00[ASN][1000 genomes]
rs62014673	0.80[EUR][1000 genomes]
rs62014674	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71464844	1.00[ASN][1000 genomes]
rs7168640	1.00[ASN][1000 genomes]
rs7175933	0.93[EUR][1000 genomes]
rs8039219	0.81[EUR][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
rs11634771	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	chr15:34368000-34391600	Weak transcription	Right Ventricle	heart
3	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
4	chr15:34369600-34391600	Weak transcription	NHEK	skin
5	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
6	chr15:34373600-34392400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:34374200-34392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:34374400-34391600	Weak transcription	Fetal Brain Male	brain
9	chr15:34374800-34391600	Weak transcription	Small Intestine	intestine
10	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:34375000-34392800	Weak transcription	Fetal Heart	heart
12	chr15:34375000-34393000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:34375800-34391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:34376000-34392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:34376800-34392400	Weak transcription	Brain Substantia Nigra	brain
16	chr15:34378400-34392400	Weak transcription	NHLF	lung
17	chr15:34378600-34392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:34378600-34392600	Weak transcription	Fetal Kidney	kidney
19	chr15:34378800-34393000	Weak transcription	Lung	lung
20	chr15:34379000-34393000	Weak transcription	Esophagus	oesophagus
21	chr15:34380200-34391600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:34380200-34391800	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:34380200-34392800	Weak transcription	HSMMtube	muscle
24	chr15:34380200-34393000	Weak transcription	Ovary	ovary
25	chr15:34380200-34393400	Weak transcription	Gastric	stomach
26	chr15:34380400-34391600	Weak transcription	Thymus	Thymus
27	chr15:34380400-34391800	Weak transcription	Left Ventricle	heart
28	chr15:34380400-34391800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:34380400-34391800	Weak transcription	Spleen	Spleen
30	chr15:34380400-34392400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:34380600-34391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:34381200-34391600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:34381200-34393400	Weak transcription	Pancreas	Pancrea
34	chr15:34382200-34392200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:34382400-34391600	Weak transcription	HepG2	liver
36	chr15:34382600-34391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:34382600-34391600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:34382600-34392800	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:34383400-34391600	Weak transcription	Brain Angular Gyrus	brain
40	chr15:34387000-34391600	Weak transcription	Fetal Stomach	stomach
41	chr15:34387000-34391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:34387000-34392600	Weak transcription	Fetal Intestine Small	intestine
43	chr15:34387400-34391400	Weak transcription	Primary T cells from cord blood	blood
44	chr15:34387400-34391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:34387400-34391600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:34387400-34391600	Weak transcription	Fetal Intestine Large	intestine
47	chr15:34387400-34391800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:34387400-34391800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:34387400-34391800	Weak transcription	Fetal Thymus	thymus
50	chr15:34387400-34392200	Weak transcription	Brain Inferior Temporal Lobe	brain

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