Variant report

Variant	rs508726
Chromosome Location	chr4:20269689-20269690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20264521..20266805-chr4:20268448..20270041,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1323065	1.00[ASN][1000 genomes]
rs2575077	1.00[ASN][1000 genomes]
rs2760134	1.00[ASN][1000 genomes]
rs4552453	1.00[ASN][1000 genomes]
rs527371	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529193	1.00[ASN][1000 genomes]
rs593943	1.00[ASN][1000 genomes]
rs611907	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615576	1.00[ASN][1000 genomes]
rs624354	1.00[ASN][1000 genomes]
rs625909	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643189	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643562	1.00[ASN][1000 genomes]
rs793380	1.00[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	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv461287	chr4:20261786-20292239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv593791	chr4:20261786-20292239	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258000-20275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
3	chr4:20258400-20274000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20260000-20273600	Weak transcription	Fetal Kidney	kidney
5	chr4:20260000-20273800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:20260000-20276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:20261800-20273200	Weak transcription	NHLF	lung
8	chr4:20263000-20272000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:20264800-20273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:20266000-20270000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:20268000-20269800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:20268000-20270400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:20268600-20269800	Weak transcription	NHDF-Ad	bronchial
14	chr4:20268600-20270400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:20268600-20270400	Weak transcription	Fetal Lung	lung
16	chr4:20268600-20271200	Weak transcription	Aorta	Aorta
17	chr4:20268600-20271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:20268600-20273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:20268600-20280000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:20268800-20270000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:20268800-20272200	Weak transcription	Brain Anterior Caudate	brain
22	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:20269000-20273400	Weak transcription	NHEK	skin
24	chr4:20269200-20270200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:20269400-20273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:20269600-20270600	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links