Variant report

Variant	rs2357920
Chromosome Location	chr1:210724172-210724173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12122837	0.91[AMR][1000 genomes]
rs12124286	0.89[AMR][1000 genomes]
rs12130516	0.92[CEU][hapmap];0.86[CHD][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12131405	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12139453	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12142819	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12754753	0.86[CHD][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes]
rs17188344	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17188367	0.92[CEU][hapmap];0.91[CHD][hapmap];0.88[LWK][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34226838	0.91[AMR][1000 genomes]
rs34542042	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4344331	0.86[CHD][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1812485	chr1:210712495-210724779	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3321106	chr1:210720529-210726827	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1806476	chr1:210721874-210724779	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv1834576	chr1:210721874-210724779	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv1841865	chr1:210721874-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv549107	chr1:210721874-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
12	esv3321110	chr1:210722118-210725112	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
13	nsv819787	chr1:210722199-210725068	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv6795	chr1:210722243-210725141	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
15	nsv435854	chr1:210722255-210727263	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv4955	chr1:210722259-210725008	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
17	esv3321112	chr1:210722350-210724982	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3321108	chr1:210722381-210724954	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
19	esv1792627	chr1:210722392-210724606	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv1794289	chr1:210722392-210724606	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
21	esv1830816	chr1:210722392-210724606	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv1832901	chr1:210722392-210724606	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
23	esv1847201	chr1:210722392-210724606	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
24	esv1848643	chr1:210722392-210724606	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
25	esv3321111	chr1:210722402-210724908	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
26	nsv826520	chr1:210722403-210724860	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv820875	chr1:210722403-210725138	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv826531	chr1:210722403-210725138	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
29	esv3321109	chr1:210722435-210724922	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	esv3321113	chr1:210722453-210724881	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
31	esv13554	chr1:210722474-210724965	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
32	esv1814539	chr1:210722554-210724347	Weak transcription	n/a	n/a	inside rSNPs	diseases
33	nsv549112	chr1:210722554-210724347	Weak transcription	n/a	n/a	inside rSNPs	diseases
34	nsv549113	chr1:210722554-210724537	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
35	esv1808259	chr1:210722554-210724717	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv1838648	chr1:210722554-210724717	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	nsv549114	chr1:210722554-210724717	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
38	esv1804863	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	esv1805519	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
40	esv1808059	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
41	esv1810638	chr1:210722554-210724779	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
42	esv1811974	chr1:210722554-210724779	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
43	esv1815507	chr1:210722554-210724779	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
44	esv1815513	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
45	esv1816256	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
46	esv1819076	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
47	esv1819189	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
48	esv1820058	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
49	esv1821208	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
50	esv1823059	chr1:210722554-210724779	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
3	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart

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