Variant report

Variant	rs9548654
Chromosome Location	chr13:39749185-39749186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2324163	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324164	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324165	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324166	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3927575	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4274310	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4296143	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7333862	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315658	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315659	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315660	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315661	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532338	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532339	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548653	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576746	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576747	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576748	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 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	nsv1048391	chr13:39735088-39832358	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1036124	chr13:39735088-39837566	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047276	chr13:39735088-39839257	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3509263	chr13:39745852-39751850	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv1809493	chr13:39746260-39750239	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv1813706	chr13:39746260-39750239	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv1805490	chr13:39746260-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv1809236	chr13:39746260-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv1805783	chr13:39746260-39764128	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3509241	chr13:39747380-39751730	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3509274	chr13:39747428-39751706	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3509252	chr13:39747449-39751666	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv3509286	chr13:39747470-39751693	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
15	esv3509297	chr13:39747517-39751625	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
16	esv17002	chr13:39747517-39751641	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv2421658	chr13:39747763-39751136	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
18	nsv442668	chr13:39747763-39751136	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv1806677	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv1808468	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv1809237	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1809760	chr13:39747792-39751227	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1810988	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv1814503	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv1814939	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
26	esv1807665	chr13:39747792-39751612	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
27	esv1808475	chr13:39747792-39751612	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
28	esv1811993	chr13:39747792-39751612	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
29	esv1814014	chr13:39747792-39751612	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
30	esv1809485	chr13:39747792-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
31	esv1811846	chr13:39747792-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
32	esv1814292	chr13:39747792-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
33	esv1806335	chr13:39748022-39750239	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
34	nsv514695	chr13:39748272-39750800	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39739000-39764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:39748800-39750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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