Variant report

Variant	rs2284132
Chromosome Location	chr3:42562427-42562428
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	chr3:42560987..42564095-chr3:42566149..42569612,4	K562	blood:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12493291	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap]
rs2239499	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2239500	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267534	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267536	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267537	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267538	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28684623	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs407931	0.82[CHB][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.80[AMR][1000 genomes]
rs414977	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs450812	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58526597	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs735773	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7625494	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7635291	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7640893	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs811198	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9841214	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2284132	VIPR1	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42547600-42579000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:42552200-42581000	Weak transcription	Pancreas	Pancrea
3	chr3:42552400-42570000	Weak transcription	Fetal Stomach	stomach
4	chr3:42553600-42566600	Weak transcription	Primary B cells from cord blood	blood
5	chr3:42557400-42566200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:42557600-42569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:42557600-42571600	Weak transcription	Brain Angular Gyrus	brain
8	chr3:42557600-42574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:42557600-42574400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:42557800-42586000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:42557800-42590400	Weak transcription	Aorta	Aorta
12	chr3:42558000-42570200	Weak transcription	Adipose Nuclei	Adipose
13	chr3:42558000-42573000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:42558000-42585200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:42560200-42562600	Genic enhancers	Lung	lung
16	chr3:42560200-42563000	Genic enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:42560200-42573400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:42560400-42562600	Enhancers	Stomach Mucosa	stomach
19	chr3:42560400-42562800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:42560400-42562800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr3:42560400-42562800	Genic enhancers	Rectal Mucosa Donor 29	rectum
22	chr3:42560400-42563400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:42560600-42562800	Genic enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:42560600-42563000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:42560600-42563200	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:42561000-42581000	Weak transcription	Gastric	stomach
27	chr3:42561400-42570400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:42561600-42562600	Enhancers	Esophagus	oesophagus
29	chr3:42561600-42562800	Enhancers	Right Atrium	heart
30	chr3:42561600-42562800	Enhancers	Spleen	Spleen
31	chr3:42561600-42563000	Enhancers	Right Ventricle	heart
32	chr3:42561800-42562600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:42561800-42562800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:42561800-42562800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr3:42561800-42563000	Strong transcription	Fetal Intestine Small	intestine
36	chr3:42561800-42563200	Enhancers	Fetal Heart	heart
37	chr3:42561800-42564000	Strong transcription	Fetal Intestine Large	intestine
38	chr3:42561800-42565600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:42561800-42568600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:42562000-42563000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:42562000-42567600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:42562200-42562600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:42562200-42562600	Enhancers	Placenta	Placenta
44	chr3:42562200-42563000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:42562200-42563200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr3:42562200-42564200	Weak transcription	Primary T cells from cord blood	blood
47	chr3:42562200-42566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:42562400-42562600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:42562400-42562800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:42562400-42562800	Enhancers	Left Ventricle	heart

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