Variant report

Variant	rs7715982
Chromosome Location	chr5:95991998-95991999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95985441..95987708-chr5:95989589..95992814,3	K562	blood:
2	chr5:95991448..95995486-chr5:95995938..96001045,12	MCF-7	breast:
3	chr5:95973246..95975490-chr5:95991311..95993586,2	K562	blood:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10866771	0.84[ASN][1000 genomes]
rs11739478	0.83[ASN][1000 genomes]
rs11743648	0.85[ASN][1000 genomes]
rs13184900	0.87[ASN][1000 genomes]
rs1421912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152006	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26486	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31247	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34847574	0.89[ASN][1000 genomes]
rs35015183	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4400148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4434401	0.85[ASN][1000 genomes]
rs4869148	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62364719	0.89[ASN][1000 genomes]
rs6891870	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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 miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7715982	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95983200-95994200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:95985400-95992000	Weak transcription	Pancreas	Pancrea
3	chr5:95986200-95992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:95986200-95992000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:95986200-95992000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:95986600-95992000	Weak transcription	Fetal Intestine Large	intestine
7	chr5:95988400-95994600	Enhancers	NHEK	skin
8	chr5:95988800-95992000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:95989000-95992000	Weak transcription	Esophagus	oesophagus
10	chr5:95989000-95996200	Weak transcription	Fetal Lung	lung
11	chr5:95989200-95996400	Weak transcription	Placenta	Placenta
12	chr5:95989600-95993000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:95990000-95996400	Enhancers	Hela-S3	cervix
14	chr5:95990200-95993400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:95990200-95994400	Enhancers	HSMM	muscle
16	chr5:95990400-95994400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:95990400-95994600	Enhancers	NHDF-Ad	bronchial
18	chr5:95990600-95992600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr5:95990600-95995000	Enhancers	HMEC	breast
20	chr5:95990600-95996600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:95990800-95992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:95990800-95993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:95990800-95993600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:95990800-95993600	Enhancers	HUVEC	blood vessel
25	chr5:95990800-95994000	Enhancers	NHLF	lung
26	chr5:95990800-95994200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:95990800-95994200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:95990800-95994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:95990800-95994200	Enhancers	NH-A	brain
30	chr5:95990800-95994200	Enhancers	Osteobl	bone
31	chr5:95991000-95992000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:95991000-95992200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:95991000-95992200	Enhancers	Liver	Liver
34	chr5:95991000-95992600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:95991000-95994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:95991200-95992000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:95991200-95992000	Weak transcription	Gastric	stomach
38	chr5:95991200-95992000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:95991200-95992200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:95991200-95992800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:95991200-95994200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:95991400-95992000	Enhancers	Fetal Kidney	kidney
43	chr5:95991400-95993200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:95991600-95992000	Enhancers	A549	lung
45	chr5:95991600-95992000	Weak transcription	HSMMtube	muscle
46	chr5:95991600-95992400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:95991600-95996600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:95991800-95992800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:95991800-95993000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:95991800-95993200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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