Variant report

Variant	rs1436922
Chromosome Location	chr15:34371786-34371787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34370045..34372287-chr15:34393499..34395176,2	K562	blood:
2	chr15:34370787..34372782-chr15:34392873..34395176,2	K562	blood:

Variant related genes	Relation type
ENSG00000134153	Chromatin interaction
ENSG00000182405	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10152308	0.83[CEU][hapmap]
rs10152504	0.83[CEU][hapmap]
rs11634415	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11634610	0.93[EUR][1000 genomes]
rs11634771	0.93[EUR][1000 genomes]
rs12442535	0.81[ASN][1000 genomes]
rs12903907	1.00[JPT][hapmap]
rs12917116	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17817764	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2632077	1.00[JPT][hapmap]
rs2705338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448088	0.90[EUR][1000 genomes]
rs3764237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap]
rs4779657	0.93[EUR][1000 genomes]
rs483279	1.00[JPT][hapmap]
rs486230	1.00[JPT][hapmap]
rs488762	1.00[JPT][hapmap]
rs489945	1.00[JPT][hapmap]
rs499167	0.91[CEU][hapmap]
rs514472	1.00[JPT][hapmap]
rs519152	1.00[JPT][hapmap]
rs519210	1.00[JPT][hapmap]
rs520032	1.00[JPT][hapmap]
rs541098	0.84[EUR][1000 genomes]
rs554303	0.91[CEU][hapmap]
rs579975	0.91[CEU][hapmap]
rs62014673	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62014674	0.99[EUR][1000 genomes]
rs639860	1.00[JPT][hapmap]
rs640291	1.00[JPT][hapmap]
rs646339	1.00[JPT][hapmap]
rs647721	1.00[JPT][hapmap]
rs7175933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029344	0.91[CEU][hapmap]
rs8033335	0.83[CEU][hapmap]
rs8035849	0.91[CEU][hapmap]
rs8037065	0.83[CEU][hapmap]
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
rs1436922	AVEN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34354200-34372400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
6	chr15:34361800-34375200	Weak transcription	Left Ventricle	heart
7	chr15:34364800-34375400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:34365800-34378000	Weak transcription	HSMMtube	muscle
9	chr15:34367800-34375600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:34367800-34375600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr15:34368000-34379600	Weak transcription	Fetal Brain Female	brain
12	chr15:34368000-34391600	Weak transcription	Right Ventricle	heart
13	chr15:34368200-34378200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:34368400-34375600	Weak transcription	Primary B cells from cord blood	blood
15	chr15:34368600-34374600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:34368600-34375000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:34368800-34375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
19	chr15:34369000-34375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:34369000-34375600	Weak transcription	Brain Germinal Matrix	brain
21	chr15:34369000-34376000	Weak transcription	Primary T cells from cord blood	blood
22	chr15:34369400-34374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:34369400-34377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:34369400-34378200	Weak transcription	Esophagus	oesophagus
25	chr15:34369600-34376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:34369600-34378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:34369600-34391600	Weak transcription	NHEK	skin
28	chr15:34370000-34379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:34370200-34375600	Weak transcription	Fetal Kidney	kidney
30	chr15:34370400-34375600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:34370800-34372000	Enhancers	Fetal Intestine Large	intestine
32	chr15:34371000-34376400	Weak transcription	Ovary	ovary
33	chr15:34371000-34377600	Weak transcription	Fetal Intestine Small	intestine
34	chr15:34371400-34375600	Weak transcription	Liver	Liver
35	chr15:34371600-34372600	Enhancers	K562	blood

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