Variant report

Variant	rs7164569
Chromosome Location	chr15:31793930-31793931
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	chr15:31789301..31792220-chr15:31792871..31795372,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12439403	0.87[ASN][1000 genomes]
rs2019121	0.88[ASN][1000 genomes]
rs28571821	0.86[ASN][1000 genomes]
rs28583425	0.90[ASN][1000 genomes]
rs4779536	0.85[ASN][1000 genomes]
rs723623	0.85[ASN][1000 genomes]
rs8037203	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1046271	chr15:31741255-31795961	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv903845	chr15:31751664-31939001	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv817679	chr15:31787108-31795199	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Venous thromboembolism	23650146	GWAS catalog

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31782400-31821000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:31785400-31794800	Weak transcription	Ovary	ovary
3	chr15:31786600-31800400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:31787200-31810800	Weak transcription	Pancreas	Pancrea
5	chr15:31789600-31796200	Strong transcription	Brain Substantia Nigra	brain
6	chr15:31790000-31796200	Strong transcription	Brain Anterior Caudate	brain
7	chr15:31790400-31795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:31791600-31797000	Strong transcription	Brain Cingulate Gyrus	brain
9	chr15:31791800-31794000	Enhancers	Left Ventricle	heart
10	chr15:31791800-31795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:31791800-31796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:31791800-31796600	Weak transcription	HMEC	breast
13	chr15:31792000-31794400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:31792000-31796000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:31792200-31795000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:31792400-31796200	Strong transcription	Brain Hippocampus Middle	brain
17	chr15:31792600-31795200	Weak transcription	Brain Germinal Matrix	brain
18	chr15:31792600-31796800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr15:31793000-31795600	Strong transcription	Fetal Brain Female	brain
20	chr15:31793200-31794000	Weak transcription	Right Atrium	heart
21	chr15:31793200-31794200	Enhancers	Adipose Nuclei	Adipose
22	chr15:31793200-31795800	Weak transcription	Spleen	Spleen
23	chr15:31793800-31794000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:31793800-31794000	Enhancers	Esophagus	oesophagus
25	chr15:31793800-31794200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr15:31793800-31796400	Strong transcription	Brain Angular Gyrus	brain

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