Variant report

Variant	rs9315689
Chromosome Location	chr13:40054523-40054524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12372821	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17060034	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2324330	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812880	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7331980	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8002946	0.94[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576813	0.94[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs9576814	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9603546	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9603547	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40041600-40057800	Weak transcription	NHDF-Ad	bronchial
2	chr13:40043600-40068200	Weak transcription	Lung	lung
3	chr13:40046000-40058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:40046800-40057800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:40049800-40055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:40050000-40057800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:40051200-40054800	Enhancers	Ovary	ovary
8	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
9	chr13:40051600-40057000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:40052000-40057400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:40052800-40054800	Enhancers	Right Atrium	heart
12	chr13:40053600-40057800	Weak transcription	NH-A	brain
13	chr13:40054000-40055600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:40054200-40054600	Weak transcription	Right Ventricle	heart
15	chr13:40054200-40055800	Weak transcription	Left Ventricle	heart
16	chr13:40054200-40057400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:40054200-40057800	Weak transcription	Fetal Heart	heart
18	chr13:40054200-40060600	Weak transcription	Aorta	Aorta
19	chr13:40054400-40054800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:40054400-40057800	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:40054400-40060800	Weak transcription	Fetal Lung	lung

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