Variant report

Variant	rs7996491
Chromosome Location	chr13:93940856-93940857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93939038..93941891-chr9:134153459..134155079,2	K562	blood:
2	chr13:93936066..93939201-chr13:93939532..93943532,9	K562	blood:
3	chr13:93936716..93945483-chr13:93945998..93955040,13	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12430104	0.92[EUR][1000 genomes]
rs12853940	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs12873150	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17234334	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17234362	0.83[EUR][1000 genomes]
rs17300059	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17300101	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs2031845	0.88[EUR][1000 genomes]
rs2057524	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.92[EUR][1000 genomes]
rs35482480	0.90[EUR][1000 genomes]
rs4773727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4773728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773731	0.95[EUR][1000 genomes]
rs67667167	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68078947	0.88[EUR][1000 genomes]
rs7139955	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8001061	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs9584099	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9584100	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9584101	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9584102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589696	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9589699	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9589701	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9589702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9589705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9589707	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9589709	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9589710	1.00[CEU][hapmap];0.88[EUR][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	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93924400-93942000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:93929000-93953800	Weak transcription	Right Atrium	heart
3	chr13:93932400-93952200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:93934800-93942200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:93934800-93945800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:93938400-93943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:93938800-93946000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:93939000-93945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:93939200-93945600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:93939800-93941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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