Variant report

Variant	rs16967692
Chromosome Location	chr15:39181802-39181803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11073362	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12443342	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592767	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592792	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12593309	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12594929	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12594953	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12901090	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16967700	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1836169	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1836170	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2411219	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35026885	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4310828	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4477676	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4628936	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7177997	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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	nsv1046994	chr15:38806163-39239014	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832975	chr15:39011915-39227590	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1054810	chr15:39019900-39578526	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542359	chr15:39019900-39578526	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040746	chr15:39126735-39327690	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv904090	chr15:39138908-39347192	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16967692	DISP2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39172800-39182400	Weak transcription	Pancreas	Pancrea
2	chr15:39176200-39197600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr15:39176800-39182000	Enhancers	Placenta	Placenta
4	chr15:39178200-39185200	Weak transcription	Fetal Kidney	kidney
5	chr15:39179200-39187200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:39179400-39182000	Weak transcription	HUVEC	blood vessel
7	chr15:39179400-39183400	Enhancers	Hela-S3	cervix
8	chr15:39179600-39182000	Enhancers	A549	lung
9	chr15:39179600-39182400	Weak transcription	Esophagus	oesophagus
10	chr15:39179600-39182400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:39179600-39183000	Weak transcription	Fetal Intestine Small	intestine
12	chr15:39179600-39186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:39179600-39186600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:39179800-39185000	Weak transcription	HSMM	muscle
15	chr15:39179800-39185000	Weak transcription	NHDF-Ad	bronchial
16	chr15:39179800-39185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:39179800-39185200	Weak transcription	NHLF	lung
18	chr15:39179800-39185200	Weak transcription	Osteobl	bone
19	chr15:39180000-39185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:39180400-39182000	Enhancers	Fetal Lung	lung
21	chr15:39181200-39185800	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:39181200-39186400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:39181400-39182400	Weak transcription	Fetal Intestine Large	intestine
24	chr15:39181400-39185000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:39181400-39185000	Weak transcription	Ovary	ovary
26	chr15:39181400-39185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:39181400-39185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:39181400-39185800	Weak transcription	Fetal Stomach	stomach
29	chr15:39181600-39185000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:39181800-39185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:39181800-39185800	Weak transcription	Fetal Heart	heart

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