Variant report

Variant	rs7992679
Chromosome Location	chr13:93979771-93979772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93978514..93980606-chr9:134150667..134152493,2	K562	blood:
2	chr13:93977629..93980676-chr13:93981025..93983333,3	K562	blood:
3	chr13:93977966..93980099-chr13:93991360..93994357,2	K562	blood:
4	chr13:93969120..93972348-chr13:93976896..93981024,5	K562	blood:

Variant related genes	Relation type
ENSG00000126882	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11617476	1.00[JPT][hapmap]
rs1323975	0.87[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1323985	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1323988	1.00[JPT][hapmap]
rs1373835	1.00[JPT][hapmap]
rs1408209	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1408219	1.00[JPT][hapmap]
rs1819341	0.91[AMR][1000 genomes]
rs1952361	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2225189	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2762095	1.00[JPT][hapmap]
rs2762097	1.00[JPT][hapmap]
rs2762100	1.00[JPT][hapmap]
rs2762106	1.00[JPT][hapmap]
rs2762107	1.00[JPT][hapmap]
rs2762109	1.00[JPT][hapmap]
rs2762110	1.00[JPT][hapmap]
rs2762111	1.00[JPT][hapmap]
rs2762114	1.00[JPT][hapmap]
rs2762116	1.00[JPT][hapmap]
rs2762117	1.00[JPT][hapmap]
rs2813608	1.00[JPT][hapmap]
rs2813609	1.00[JPT][hapmap]
rs2813610	1.00[JPT][hapmap]
rs2813615	1.00[JPT][hapmap]
rs35664727	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4142601	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773741	1.00[JPT][hapmap]
rs4773742	1.00[JPT][hapmap]
rs6492659	0.87[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7324202	1.00[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7982827	1.00[JPT][hapmap]
rs7984266	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7988684	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8001600	1.00[JPT][hapmap]
rs9301874	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9301875	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9524017	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9524021	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9561321	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9561325	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9561332	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs995811	0.87[ASW][hapmap];0.94[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93971400-93982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:93974200-93982400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:93977600-93982800	Enhancers	Fetal Intestine Large	intestine
4	chr13:93978000-93980000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:93978000-93980400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:93978000-93982600	Enhancers	Fetal Intestine Small	intestine
7	chr13:93978200-93980000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:93978600-93980000	Enhancers	Fetal Brain Male	brain
9	chr13:93978600-93980800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:93978600-93981800	Weak transcription	Ovary	ovary
11	chr13:93978800-93981000	Weak transcription	Fetal Lung	lung
12	chr13:93979200-93980000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:93979200-93980000	Enhancers	Liver	Liver
14	chr13:93979200-93980200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:93979600-93979800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr13:93979600-93980000	Enhancers	Cortex derived primary cultured neurospheres	brain

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