Variant report

Variant	rs1475449
Chromosome Location	chr13:93971320-93971321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93971014..93972548-chr9:134153245..134155429,2	K562	blood:
2	chr13:93953293..93954914-chr13:93971017..93973677,2	K562	blood:
3	chr13:93969124..93971433-chr9:134150547..134152768,2	K562	blood:
4	chr13:93969120..93972348-chr13:93976896..93981024,5	K562	blood:
5	chr13:93963826..93965366-chr13:93969759..93971609,2	K562	blood:
6	chr13:93970087..93972348-chr13:93976027..93978960,2	K562	blood:
7	chr13:93963069..93968175-chr13:93968737..93971609,6	K562	blood:

Variant related genes	Relation type
ENSG00000126882	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1323994	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1323995	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2025949	0.94[CEU][hapmap]
rs4142598	0.94[CEU][hapmap]
rs4773730	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6492657	0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs6492658	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7320636	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7320857	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7321055	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7338482	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7338831	0.87[CEU][hapmap]
rs7338914	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7339375	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996507	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9301865	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9516212	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9516216	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9523990	0.86[CEU][hapmap]
rs9523991	1.00[CEU][hapmap]
rs9523998	0.94[CEU][hapmap]
rs9524003	0.92[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9524010	0.93[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs956036	0.94[CEU][hapmap];0.81[JPT][hapmap];0.90[AFR][1000 genomes]
rs9561304	0.94[CEU][hapmap]
rs9589698	0.87[CEU][hapmap]
rs963206	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1050202	chr13:93961478-93982388	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93963000-93973400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:93963200-93971600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:93968000-93971600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:93968400-93971400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:93968400-93971400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:93968400-93971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:93968400-93971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:93968400-93972400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:93968400-93974200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:93968600-93972400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:93969200-93973400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:93970200-93971600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:93970400-93973200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:93970600-93971600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr13:93970800-93971800	Enhancers	Fetal Intestine Large	intestine
16	chr13:93971000-93971400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr13:93971000-93971600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:93971000-93971800	Enhancers	A549	lung
19	chr13:93971200-93971600	Enhancers	H1 Cell Line	embryonic stem cell

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