Variant report

Variant	rs12344708
Chromosome Location	chr9:13727614-13727615
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	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:
2	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10115052	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125903	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339356	0.87[ASN][1000 genomes]
rs12339993	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12350251	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13292780	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13301308	0.87[ASN][1000 genomes]
rs17191861	1.00[CHB][hapmap]
rs34324640	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496857	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504659	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs537556	0.81[EUR][1000 genomes]
rs594872	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs611973	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs612828	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs627216	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs629775	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs648981	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs789583	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs789593	0.86[EUR][1000 genomes]
rs789598	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023684	chr9:13529680-13744602	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv540067	chr9:13529680-13744602	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892587	chr9:13601074-13732363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018933	chr9:13669862-13756710	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892590	chr9:13689066-13777299	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032702	chr9:13723812-13760986	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13717600-13728000	Weak transcription	HUVEC	blood vessel
2	chr9:13720800-13729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:13727200-13730000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr9:13727200-13730200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr9:13727400-13728000	Weak transcription	Psoas Muscle	Psoas
6	chr9:13727400-13728200	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:13727400-13729800	Enhancers	Fetal Brain Male	brain
8	chr9:13727600-13728200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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