Variant report

Variant	rs9317600
Chromosome Location	chr13:67247879-67247880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11148711	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148712	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11617128	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12050030	0.90[CEU][hapmap];0.92[YRI][hapmap]
rs12583568	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12585457	0.91[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12860631	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12874983	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12877610	0.95[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2012246	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2146744	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2146745	0.91[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2146746	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2181535	0.82[CEU][hapmap];0.80[GIH][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs4591019	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4884685	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4884686	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4884687	0.91[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4884688	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4884689	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4884692	0.84[EUR][1000 genomes]
rs7140112	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7326510	0.94[EUR][1000 genomes]
rs7330555	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7334135	0.84[EUR][1000 genomes]
rs7987589	0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs7997342	0.94[EUR][1000 genomes]
rs9317603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9317604	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9564330	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9571613	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571615	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571618	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571619	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571620	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9571621	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571622	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571623	0.91[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571624	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571625	0.91[CEU][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571626	0.91[CEU][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571627	0.91[CEU][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571628	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571629	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571630	0.91[CEU][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9571631	0.92[EUR][1000 genomes]
rs9592483	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9599131	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9599133	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs9599137	0.91[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs981164	0.91[ASW][hapmap];0.91[CEU][hapmap];0.84[GIH][hapmap];0.82[LWK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs981165	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2422196	chr13:67041890-67295480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1041542	chr13:67166358-67341919	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv541816	chr13:67166358-67341919	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv562130	chr13:67200654-67306783	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv900398	chr13:67212422-67343266	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv455928	chr13:67212422-67392298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv562131	chr13:67212422-67392298	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv455929	chr13:67220803-67256279	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv562132	chr13:67220803-67256279	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv826688	chr13:67229015-67318800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv34348	chr13:67231499-67325786	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv2757539	chr13:67231505-67319982	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2759944	chr13:67231505-67319982	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1047248	chr13:67233848-67307431	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv541819	chr13:67233848-67307431	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1054836	chr13:67233969-67282978	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1037111	chr13:67233969-67309373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv541820	chr13:67233969-67309373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv455931	chr13:67235611-67297898	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv562133	chr13:67235611-67297898	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67240600-67249600	Weak transcription	Osteobl	bone
2	chr13:67243800-67255400	Weak transcription	Brain Substantia Nigra	brain
3	chr13:67246600-67248000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:67247000-67248800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:67247200-67248000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:67247200-67248000	Enhancers	HSMM	muscle
7	chr13:67247200-67248200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:67247600-67248000	Enhancers	Brain Hippocampus Middle	brain
9	chr13:67247600-67249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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