Variant report

Variant	rs2064318
Chromosome Location	chr6:35477025-35477026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:35476954-35477409	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35476971..35479724-chr6:35699932..35701695,3	MCF-7	breast:
2	chr6:35474347..35477035-chr6:35697866..35700088,2	K562	blood:

Variant related genes	Relation type
TULP1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1540909	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3807049	0.84[YRI][hapmap]
rs3997734	0.90[ASN][1000 genomes]
rs4634451	0.85[ASN][1000 genomes]
rs4711420	0.82[ASN][1000 genomes]
rs4713882	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57630882	0.86[ASN][1000 genomes]
rs6457830	0.82[ASN][1000 genomes]
rs6923949	0.93[ASN][1000 genomes]
rs6935833	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6935976	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7764472	0.99[ASN][1000 genomes]
rs9296155	0.99[ASN][1000 genomes]
rs9380516	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9470048	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
3	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
5	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1022435	chr6:35476562-35556141	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1034786	chr6:35476562-35564799	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1031987	chr6:35476562-35579375	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35466400-35479200	Weak transcription	Right Ventricle	heart
2	chr6:35466800-35479400	Weak transcription	Right Atrium	heart
3	chr6:35467400-35478600	Weak transcription	Fetal Lung	lung
4	chr6:35473400-35479400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:35474400-35478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:35474400-35478800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:35476000-35477400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:35476000-35477400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:35476000-35478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:35476200-35478000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:35476400-35477600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:35476400-35477800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:35476600-35477200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:35476600-35477200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr6:35476800-35477600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr6:35476800-35477600	Bivalent Enhancer	GM12878-XiMat	blood
17	chr6:35476800-35479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:35477000-35477200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:35477000-35477200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr6:35477000-35477400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr6:35477000-35477600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:35477000-35479000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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