Variant report

Variant	rs4476239
Chromosome Location	chr18:8186424-8186425
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8185001..8187861-chr18:8190708..8193578,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1106700	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11081362	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12955911	0.89[ASN][1000 genomes]
rs2192193	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2302502	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4405615	0.92[CEU][hapmap]
rs4459615	0.88[ASN][1000 genomes]
rs62091308	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62091309	0.86[EUR][1000 genomes]
rs6506552	0.85[ASN][1000 genomes]
rs6506559	0.92[CEU][hapmap]
rs7227119	0.82[AMR][1000 genomes]
rs7227620	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7232503	0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7233007	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7233080	0.89[ASN][1000 genomes]
rs7233548	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7238402	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7242256	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8099632	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs978862	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9960976	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv909360	chr18:8167050-8207445	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8175000-8195000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:8177600-8187600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr18:8177800-8192800	Weak transcription	Fetal Heart	heart
5	chr18:8178000-8186600	Weak transcription	Left Ventricle	heart
6	chr18:8178000-8186600	Weak transcription	Pancreas	Pancrea
7	chr18:8178000-8190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:8178000-8191200	Weak transcription	Gastric	stomach
9	chr18:8178000-8192400	Weak transcription	A549	lung
10	chr18:8178000-8193600	Weak transcription	Ovary	ovary
11	chr18:8178000-8198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:8178000-8204800	Weak transcription	Right Ventricle	heart
13	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:8178200-8186600	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:8178200-8191000	Weak transcription	Psoas Muscle	Psoas
16	chr18:8178200-8200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
18	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
19	chr18:8178600-8186600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:8178600-8188200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:8179000-8196200	Weak transcription	Primary T cells from cord blood	blood
22	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:8181600-8189800	Weak transcription	Lung	lung
24	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:8183600-8186600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:8185600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:8185800-8189600	Weak transcription	Esophagus	oesophagus
28	chr18:8186200-8186600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links