Variant report

Variant	rs1351935
Chromosome Location	chr2:151907908-151907909
allele	C/T
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	RAD21	chr2:151907754-151908976	SK-N-SH	brain:	n/a	chr2:151908304-151908323 chr2:151908313-151908322

No.	Distal block	Cell Line	Cell type
1	chr2:151768362..151769212-chr2:151907879..151908719,2	MCF-7	breast:
2	chr2:151907813..151910172-chr2:151913284..151915565,3	K562	blood:
3	chr2:151466968..151467825-chr2:151907836..151908382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222031	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167188	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10754973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1351936	1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1385425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs1385433	0.84[AMR][1000 genomes]
rs1485114	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485119	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485120	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485123	1.00[ASN][1000 genomes]
rs1485128	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485129	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485130	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16829378	1.00[ASN][1000 genomes]
rs1905750	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1948024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2341847	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2341848	1.00[ASN][1000 genomes]
rs4664232	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4664909	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4664910	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433135	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7589036	0.84[AMR][1000 genomes];1.00[ASN][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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151905800-151908600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:151905800-151909000	Enhancers	HMEC	breast
3	chr2:151906000-151908600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:151906000-151908600	Enhancers	NHEK	skin
5	chr2:151906000-151910600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:151906000-151910800	Enhancers	NHDF-Ad	bronchial
7	chr2:151906400-151912600	Weak transcription	NHLF	lung
8	chr2:151906800-151908000	Weak transcription	Osteobl	bone
9	chr2:151906800-151908200	Weak transcription	Liver	Liver
10	chr2:151907200-151908200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:151907200-151909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:151907400-151909200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:151907600-151908400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:151907600-151909200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:151907800-151908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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