Variant report

Variant	rs12535940
Chromosome Location	chr7:18164980-18164981
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	chr7:18162960..18165291-chr7:18262204..18264807,2	K562	blood:
2	chr7:18162840..18165489-chr7:18245304..18246939,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1019068	0.86[EUR][1000 genomes]
rs11768276	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12533070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537600	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12699970	0.81[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13243921	0.85[EUR][1000 genomes]
rs13247375	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1406360	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1569174	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16871944	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17138597	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17138639	1.00[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17138703	0.86[EUR][1000 genomes]
rs17138718	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs17138723	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17138728	0.81[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17138740	0.82[EUR][1000 genomes]
rs17138744	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17138751	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1919316	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961051	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2058074	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35071190	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35914810	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4721694	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6976429	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6978611	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71524235	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs768958	0.83[EUR][1000 genomes]
rs7788797	0.86[EUR][1000 genomes]
rs9638749	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022746	chr7:17978103-18233458	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1027814	chr7:18144199-18194899	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18163600-18165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:18163800-18165400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:18163800-18169400	Enhancers	Fetal Heart	heart
4	chr7:18164400-18165800	Enhancers	Fetal Lung	lung
5	chr7:18164400-18166200	Enhancers	Fetal Stomach	stomach
6	chr7:18164400-18166400	Enhancers	Fetal Kidney	kidney
7	chr7:18164400-18167400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:18164600-18165000	Enhancers	Spleen	Spleen
9	chr7:18164800-18165000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:18164800-18165000	Enhancers	Left Ventricle	heart
11	chr7:18164800-18165000	Enhancers	Pancreas	Pancrea
12	chr7:18164800-18165400	Enhancers	Fetal Brain Male	brain
13	chr7:18164800-18165400	Enhancers	Fetal Muscle Leg	muscle

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