Variant report

Variant	rs34448088
Chromosome Location	chr15:34384037-34384038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11634415	0.88[EUR][1000 genomes]
rs11634610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634771	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436922	0.90[EUR][1000 genomes]
rs17817764	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705338	0.88[EUR][1000 genomes]
rs4779657	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62014670	1.00[ASN][1000 genomes]
rs62014671	1.00[ASN][1000 genomes]
rs62014674	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71464844	1.00[ASN][1000 genomes]
rs7168640	1.00[ASN][1000 genomes]
rs7175933	0.90[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
rs34448088	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	chr15:34374800-34384200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:34374800-34385600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:34374800-34391600	Weak transcription	Small Intestine	intestine
12	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:34375000-34386800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:34375000-34392800	Weak transcription	Fetal Heart	heart
15	chr15:34375000-34393000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:34375400-34388800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:34375400-34388800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:34375600-34389000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:34375800-34391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:34376000-34390200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:34376000-34392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:34376800-34386800	Weak transcription	Fetal Lung	lung
23	chr15:34376800-34392400	Weak transcription	Brain Substantia Nigra	brain
24	chr15:34378400-34386600	Weak transcription	HUVEC	blood vessel
25	chr15:34378400-34392400	Weak transcription	NHLF	lung
26	chr15:34378600-34386400	Weak transcription	Brain Germinal Matrix	brain
27	chr15:34378600-34386800	Weak transcription	NHDF-Ad	bronchial
28	chr15:34378600-34392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:34378600-34392600	Weak transcription	Fetal Kidney	kidney
30	chr15:34378800-34393000	Weak transcription	Lung	lung
31	chr15:34379000-34385400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:34379000-34393000	Weak transcription	Esophagus	oesophagus
33	chr15:34379600-34385800	Weak transcription	Stomach Mucosa	stomach
34	chr15:34379800-34386600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:34380200-34386600	Weak transcription	Brain Anterior Caudate	brain
36	chr15:34380200-34386600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:34380200-34391600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:34380200-34391800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:34380200-34392800	Weak transcription	HSMMtube	muscle
40	chr15:34380200-34393000	Weak transcription	Ovary	ovary
41	chr15:34380200-34393400	Weak transcription	Gastric	stomach
42	chr15:34380400-34386600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:34380400-34391600	Weak transcription	Thymus	Thymus
44	chr15:34380400-34391800	Weak transcription	Left Ventricle	heart
45	chr15:34380400-34391800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:34380400-34391800	Weak transcription	Spleen	Spleen
47	chr15:34380400-34392400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:34380600-34385200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:34380600-34386600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:34380600-34386800	Weak transcription	A549	lung

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