Variant report

Variant	rs10851938
Chromosome Location	chr15:34385553-34385554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34379930..34382933-chr15:34385055..34387816,3	K562	blood:
2	chr15:34376281..34379013-chr15:34384199..34386317,2	K562	blood:

Variant related genes	Relation type
ENSG00000243094	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10152308	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10152504	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438470	0.83[ASN][1000 genomes]
rs12441615	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12898455	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2339373	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34196590	0.83[ASN][1000 genomes]
rs3764237	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764238	0.83[ASN][1000 genomes]
rs62014675	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178266	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033335	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037065	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9972453	0.83[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
rs10851938	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	chr15:34374800-34385600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:34374800-34391600	Weak transcription	Small Intestine	intestine
11	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:34375000-34386800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:34375000-34392800	Weak transcription	Fetal Heart	heart
14	chr15:34375000-34393000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:34375400-34388800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:34375400-34388800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr15:34375600-34389000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:34375800-34391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:34376000-34390200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:34376000-34392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:34376800-34386800	Weak transcription	Fetal Lung	lung
22	chr15:34376800-34392400	Weak transcription	Brain Substantia Nigra	brain
23	chr15:34378400-34386600	Weak transcription	HUVEC	blood vessel
24	chr15:34378400-34392400	Weak transcription	NHLF	lung
25	chr15:34378600-34386400	Weak transcription	Brain Germinal Matrix	brain
26	chr15:34378600-34386800	Weak transcription	NHDF-Ad	bronchial
27	chr15:34378600-34392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:34378600-34392600	Weak transcription	Fetal Kidney	kidney
29	chr15:34378800-34393000	Weak transcription	Lung	lung
30	chr15:34379000-34393000	Weak transcription	Esophagus	oesophagus
31	chr15:34379600-34385800	Weak transcription	Stomach Mucosa	stomach
32	chr15:34379800-34386600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:34380200-34386600	Weak transcription	Brain Anterior Caudate	brain
34	chr15:34380200-34386600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:34380200-34391600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:34380200-34391800	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:34380200-34392800	Weak transcription	HSMMtube	muscle
38	chr15:34380200-34393000	Weak transcription	Ovary	ovary
39	chr15:34380200-34393400	Weak transcription	Gastric	stomach
40	chr15:34380400-34386600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:34380400-34391600	Weak transcription	Thymus	Thymus
42	chr15:34380400-34391800	Weak transcription	Left Ventricle	heart
43	chr15:34380400-34391800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:34380400-34391800	Weak transcription	Spleen	Spleen
45	chr15:34380400-34392400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:34380600-34386600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:34380600-34386800	Weak transcription	A549	lung
48	chr15:34380600-34387000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr15:34380600-34387200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:34380600-34391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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