Variant report

Variant	rs62014674
Chromosome Location	chr15:34373423-34373424
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	chr15:34371878..34373674-chr15:34446162..34448935,2	K562	blood:
2	chr15:34369062..34371290-chr15:34373285..34375795,2	K562	blood:

Variant related genes	Relation type
ENSG00000134152	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11634415	0.97[EUR][1000 genomes]
rs11634610	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634771	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917116	0.85[EUR][1000 genomes]
rs1436922	0.99[EUR][1000 genomes]
rs17817764	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705338	0.97[EUR][1000 genomes]
rs34448088	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779657	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541098	0.84[EUR][1000 genomes]
rs62014670	1.00[ASN][1000 genomes]
rs62014671	1.00[ASN][1000 genomes]
rs62014673	0.85[EUR][1000 genomes]
rs71464844	1.00[ASN][1000 genomes]
rs7168640	1.00[ASN][1000 genomes]
rs7175933	0.99[EUR][1000 genomes]
rs8033781	0.80[EUR][1000 genomes]
rs8039219	0.86[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
rs62014674	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
2	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
5	chr15:34361800-34375200	Weak transcription	Left Ventricle	heart
6	chr15:34364800-34375400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:34365800-34378000	Weak transcription	HSMMtube	muscle
8	chr15:34367800-34375600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:34367800-34375600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr15:34368000-34379600	Weak transcription	Fetal Brain Female	brain
11	chr15:34368000-34391600	Weak transcription	Right Ventricle	heart
12	chr15:34368200-34378200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:34368400-34375600	Weak transcription	Primary B cells from cord blood	blood
14	chr15:34368600-34374600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:34368600-34375000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:34368800-34375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
18	chr15:34369000-34375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:34369000-34375600	Weak transcription	Brain Germinal Matrix	brain
20	chr15:34369000-34376000	Weak transcription	Primary T cells from cord blood	blood
21	chr15:34369400-34374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:34369400-34377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:34369400-34378200	Weak transcription	Esophagus	oesophagus
24	chr15:34369600-34376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:34369600-34378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:34369600-34391600	Weak transcription	NHEK	skin
27	chr15:34370000-34379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:34370200-34375600	Weak transcription	Fetal Kidney	kidney
29	chr15:34370400-34375600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:34371000-34376400	Weak transcription	Ovary	ovary
31	chr15:34371000-34377600	Weak transcription	Fetal Intestine Small	intestine
32	chr15:34371400-34375600	Weak transcription	Liver	Liver
33	chr15:34371800-34376400	Weak transcription	A549	lung
34	chr15:34372000-34375600	Weak transcription	Fetal Intestine Large	intestine
35	chr15:34372000-34375600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:34372000-34378000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr15:34372400-34375800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:34372600-34374200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:34372600-34375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:34372600-34375600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:34372600-34375800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:34372600-34375800	Weak transcription	K562	blood
43	chr15:34372800-34374600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:34372800-34374800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr15:34372800-34375800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:34372800-34376000	Weak transcription	Fetal Lung	lung
47	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
48	chr15:34373000-34374600	Weak transcription	Fetal Stomach	stomach
49	chr15:34373000-34375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:34373200-34374800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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