Variant report

Variant	rs9568405
Chromosome Location	chr13:50979655-50979656
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	chr13:50699120..50701231-chr13:50977977..50979669,2	K562	blood:
2	chr13:50698296..50700620-chr13:50977977..50980927,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1028862	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10492410	0.85[ASN][1000 genomes]
rs12428087	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1327644	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1359860	0.83[ASN][1000 genomes]
rs149846	0.86[ASN][1000 genomes]
rs17074346	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17074358	0.83[ASN][1000 genomes]
rs201763	0.84[ASN][1000 genomes]
rs201777	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs201778	0.82[ASN][1000 genomes]
rs201781	0.84[ASN][1000 genomes]
rs201782	0.84[ASN][1000 genomes]
rs201783	0.84[ASN][1000 genomes]
rs201784	0.92[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs201786	0.84[ASN][1000 genomes]
rs201789	1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs201807	0.92[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2532972	0.84[JPT][hapmap]
rs35824953	0.92[ASN][1000 genomes]
rs471315	0.80[CHD][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.90[ASN][1000 genomes]
rs56023535	0.90[ASN][1000 genomes]
rs56075206	0.90[ASN][1000 genomes]
rs58633776	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61962133	0.90[ASN][1000 genomes]
rs67618912	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs719103	0.89[ASW][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7327154	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7334326	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7983762	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7996632	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8000329	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8000921	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9316495	0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9316496	0.85[ASN][1000 genomes]
rs9316497	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9562964	0.90[ASN][1000 genomes]
rs9562965	0.92[ASN][1000 genomes]
rs9562966	0.91[ASN][1000 genomes]
rs9562967	0.91[ASN][1000 genomes]
rs9562968	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9562970	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9562972	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9562973	0.90[ASN][1000 genomes]
rs9562974	0.81[ASN][1000 genomes]
rs9568401	0.80[JPT][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap]
rs9568402	0.91[ASN][1000 genomes]
rs9568403	0.90[ASN][1000 genomes]
rs9568404	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568406	0.81[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568407	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9568408	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9568409	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9568410	0.87[ASN][1000 genomes]
rs9568412	0.89[ASN][1000 genomes]
rs9568413	0.90[ASN][1000 genomes]
rs9568414	0.83[ASN][1000 genomes]
rs9568415	0.83[ASN][1000 genomes]
rs9568416	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568418	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9568426	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568433	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9634832	0.91[ASN][1000 genomes]
rs9634834	0.92[AFR][1000 genomes];0.89[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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50966600-50979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:50968200-50985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50968200-50986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:50972200-50985400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:50975400-50985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
7	chr13:50975800-50983600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:50975800-50985200	Weak transcription	Right Atrium	heart
9	chr13:50976600-50985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:50977000-50985000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:50977200-50982400	Weak transcription	NHDF-Ad	bronchial
12	chr13:50977400-50980200	Weak transcription	Thymus	Thymus
13	chr13:50977600-50984000	Weak transcription	Hela-S3	cervix
14	chr13:50977600-50985000	Weak transcription	Osteobl	bone
15	chr13:50977800-50980800	Weak transcription	Fetal Thymus	thymus
16	chr13:50978000-50980800	Weak transcription	Fetal Heart	heart
17	chr13:50978000-50984600	Weak transcription	HepG2	liver
18	chr13:50979200-50984800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:50979200-50985000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:50979600-50984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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