Variant report

Variant	rs2057524
Chromosome Location	chr13:93958432-93958433
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	chr13:93941657..93944083-chr13:93956949..93958594,2	K562	blood:
2	chr13:93957288..93959129-chr13:93987026..93989631,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12430104	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12853940	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12873150	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17234334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17234362	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17300059	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17300101	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2031845	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35482480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4771869	0.85[MEX][hapmap]
rs4773727	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4773728	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs4773731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67667167	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68078947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139955	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7996491	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.92[EUR][1000 genomes]
rs8001061	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9584099	1.00[CEU][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs9584100	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9584101	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9584102	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs9589696	1.00[CEU][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9589699	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9589701	0.88[EUR][1000 genomes]
rs9589702	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs9589705	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs9589707	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9589709	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9589710	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv900919	chr13:93957816-94030693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93943600-93962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:93952400-93965000	Weak transcription	Fetal Kidney	kidney
3	chr13:93957400-93962000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:93957600-93959200	Enhancers	Fetal Lung	lung
5	chr13:93957600-93960000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:93957600-93960000	Enhancers	Osteobl	bone
7	chr13:93957600-93968400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:93957800-93959200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:93957800-93959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:93957800-93960000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:93957800-93960000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:93957800-93962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:93957800-93962200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:93958000-93959000	Weak transcription	NHLF	lung
15	chr13:93958000-93960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr13:93958000-93960200	Enhancers	HSMM	muscle
17	chr13:93958000-93960200	Enhancers	NH-A	brain
18	chr13:93958000-93962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:93958200-93958600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr13:93958200-93958800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:93958200-93959200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:93958200-93959600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:93958200-93960600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:93958200-93962400	Weak transcription	Fetal Brain Female	brain
25	chr13:93958200-93969800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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