Variant report

Variant	rs28415419
Chromosome Location	chr8:119453680-119453681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10090978	0.83[EUR][1000 genomes]
rs10095856	0.94[EUR][1000 genomes]
rs10104899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985193	0.97[EUR][1000 genomes]
rs16891049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891069	1.00[ASN][1000 genomes]
rs16891083	0.85[ASN][1000 genomes]
rs16891084	0.85[ASN][1000 genomes]
rs4074502	0.85[ASN][1000 genomes]
rs4077318	0.85[ASN][1000 genomes]
rs4301473	1.00[ASN][1000 genomes]
rs55666480	0.87[EUR][1000 genomes]
rs57009141	0.85[ASN][1000 genomes]
rs60628700	0.85[ASN][1000 genomes]
rs60663612	0.85[ASN][1000 genomes]
rs7014801	1.00[ASN][1000 genomes]
rs73313438	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313459	1.00[ASN][1000 genomes]
rs73313463	0.94[EUR][1000 genomes]
rs73313477	1.00[ASN][1000 genomes]
rs73313478	1.00[ASN][1000 genomes]
rs73313481	1.00[ASN][1000 genomes]
rs73313486	1.00[ASN][1000 genomes]
rs73313487	1.00[ASN][1000 genomes]
rs73315377	0.85[ASN][1000 genomes]
rs73315379	0.85[ASN][1000 genomes]
rs73315381	0.85[ASN][1000 genomes]
rs73315386	0.85[ASN][1000 genomes]
rs7813628	1.00[ASN][1000 genomes]
rs7827972	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7828344	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
2	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:119449200-119475400	Weak transcription	Gastric	stomach
4	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:119449800-119456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:119450000-119454600	Enhancers	NHDF-Ad	bronchial
7	chr8:119450400-119454000	Enhancers	Osteobl	bone
8	chr8:119450800-119454200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:119451600-119456400	Weak transcription	GM12878-XiMat	blood
10	chr8:119452400-119456000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:119452400-119456000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:119452600-119454200	Enhancers	Hela-S3	cervix
13	chr8:119452600-119454200	Enhancers	NH-A	brain
14	chr8:119452600-119455800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:119452800-119454400	Weak transcription	Spleen	Spleen
16	chr8:119452800-119455200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:119452800-119456000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:119452800-119456000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:119452800-119456000	Weak transcription	Aorta	Aorta
20	chr8:119452800-119456200	Weak transcription	Fetal Lung	lung
21	chr8:119452800-119456400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:119453000-119454000	Weak transcription	Right Atrium	heart
23	chr8:119453000-119456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:119453200-119454200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:119453200-119455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:119453200-119455800	Weak transcription	Fetal Heart	heart
27	chr8:119453200-119462400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:119453400-119454000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:119453400-119454000	Weak transcription	Ovary	ovary
30	chr8:119453400-119454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:119453400-119455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:119453400-119455800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:119453400-119456000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:119453400-119456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:119453400-119456000	Weak transcription	NHLF	lung
36	chr8:119453400-119456200	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links