Variant report

Variant	rs7591175
Chromosome Location	chr2:85738374-85738375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85736760..85739875-chr2:85763760..85768991,6	K562	blood:
2	chr2:85738083..85740030-chr2:85763581..85767374,3	K562	blood:
3	chr2:85735634..85738595-chr2:85739225..85740777,2	K562	blood:
4	chr2:85734925..85738483-chr2:85772502..85775940,3	MCF-7	breast:
5	chr2:85736886..85739082-chr2:85765100..85766701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009	0.81[CHB][hapmap]
rs1010	0.80[CHB][hapmap]
rs10175792	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10176176	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10179195	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10187424	0.81[CHB][hapmap]
rs10198569	0.81[CHB][hapmap]
rs10206961	0.81[CHB][hapmap]
rs1058588	0.81[CHB][hapmap]
rs1078004	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11891260	0.86[AMR][1000 genomes]
rs12473819	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13411109	0.93[ASN][1000 genomes]
rs1348818	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs1561198	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes]
rs17026396	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs2028900	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs2044474	0.87[CHB][hapmap];0.81[AMR][1000 genomes]
rs2166529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886722	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs34488525	0.93[ASN][1000 genomes]
rs3755014	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3755015	0.93[CEU][hapmap];0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3770098	0.82[CHB][hapmap]
rs55971080	0.85[AMR][1000 genomes]
rs59877521	0.81[AMR][1000 genomes]
rs6547620	0.81[AMR][1000 genomes]
rs6547621	0.93[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6705839	0.85[AMR][1000 genomes]
rs6705971	0.92[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714157	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6714709	0.81[AMR][1000 genomes]
rs6731005	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6733913	0.81[AMR][1000 genomes]
rs6738009	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6738514	0.88[ASN][1000 genomes]
rs6738645	0.93[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6739015	0.81[AMR][1000 genomes]
rs6743030	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757263	0.81[CHB][hapmap]
rs7568458	0.86[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes]
rs7587923	0.90[ASN][1000 genomes]
rs7605975	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9751361	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7591175	VAMP8	cis	lesional skin	skin_eQTL
rs7591175	VAMP8	cis	Esophagus Mucosa	GTEx
rs7591175	VAMP8	Cis_1M	lymphoblastoid	RTeQTL
rs7591175	GGCX	cis	Artery Tibial	GTEx
rs7591175	VAMP8	cis	multi-tissue	Pritchard
rs7591175	GGCX	cis	Whole Blood	GTEx
rs7591175	VAMP8	cis	uninvolved skin	skin_eQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85732000-85738600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:85732400-85738600	Weak transcription	Pancreas	Pancrea
3	chr2:85732400-85742600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:85732400-85743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:85732400-85744200	Weak transcription	Gastric	stomach
6	chr2:85732600-85738600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:85733200-85738400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:85733200-85738600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:85733200-85738600	Weak transcription	Colonic Mucosa	Colon
10	chr2:85733200-85738600	Weak transcription	Lung	lung
11	chr2:85733200-85742200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:85733200-85743800	Weak transcription	Esophagus	oesophagus
13	chr2:85733400-85742200	Weak transcription	Psoas Muscle	Psoas
14	chr2:85733600-85750600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:85734600-85738600	Weak transcription	HSMMtube	muscle
16	chr2:85734600-85740800	Weak transcription	Right Atrium	heart
17	chr2:85734600-85750800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:85734600-85762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:85734800-85738400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:85734800-85743600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:85735000-85738600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:85735000-85738600	Weak transcription	NHDF-Ad	bronchial
23	chr2:85735000-85738600	Weak transcription	NHLF	lung
24	chr2:85736600-85738800	Weak transcription	Placenta	Placenta
25	chr2:85737800-85738800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:85737800-85739800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:85738000-85738400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:85738000-85738600	Enhancers	Stomach Mucosa	stomach
29	chr2:85738000-85738800	Enhancers	HepG2	liver
30	chr2:85738000-85739000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:85738000-85739000	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:85738000-85739000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:85738000-85739000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:85738000-85739000	Enhancers	Spleen	Spleen
35	chr2:85738000-85739000	Enhancers	HUVEC	blood vessel
36	chr2:85738000-85739200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:85738000-85739200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:85738000-85739200	Enhancers	Adipose Nuclei	Adipose
39	chr2:85738000-85739200	Enhancers	A549	lung
40	chr2:85738000-85739400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:85738000-85739600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:85738200-85738600	Flanking Active TSS	Hela-S3	cervix
43	chr2:85738200-85738800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:85738200-85738800	Enhancers	Small Intestine	intestine
45	chr2:85738200-85739000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:85738200-85739000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:85738200-85739000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:85738200-85739200	Enhancers	HSMM	muscle

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