Variant report

Variant	rs10070317
Chromosome Location	chr5:96439070-96439071
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	chr5:96438791..96440581-chr5:96475884..96478503,2	K562	blood:

Variant related genes	Relation type
ENSG00000145721	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10035506	0.94[AFR][1000 genomes]
rs10040032	1.00[AFR][1000 genomes]
rs10061310	1.00[AFR][1000 genomes]
rs10078598	0.94[AFR][1000 genomes]
rs12332089	0.89[AFR][1000 genomes]
rs2098593	1.00[AFR][1000 genomes]
rs2303138	1.00[LWK][hapmap]
rs6890564	1.00[YRI][hapmap]
rs9314187	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr5:96428400-96440000	Weak transcription	K562	blood
2	chr5:96432600-96439200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:96432800-96445600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:96434600-96439200	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:96435000-96447400	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:96437000-96439200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:96437000-96439200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:96437000-96439200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:96437200-96441400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr5:96437400-96439200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:96437600-96441800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:96438000-96439200	Enhancers	Brain Anterior Caudate	brain
13	chr5:96438000-96441600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:96438200-96439200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:96438200-96440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:96438200-96440800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:96438200-96441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:96438200-96442000	Weak transcription	Fetal Stomach	stomach
19	chr5:96438400-96441800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:96438400-96443600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:96438600-96440000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:96438600-96442000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:96438600-96454800	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:96439000-96439200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:96439000-96439200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:96439000-96439200	Enhancers	Brain Substantia Nigra	brain
27	chr5:96439000-96439600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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