Variant report

Variant	rs12468462
Chromosome Location	chr2:213171997-213171998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497970	1.00[ASN][1000 genomes]
rs12468422	0.90[ASN][1000 genomes]
rs12468470	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468487	1.00[ASN][1000 genomes]
rs12470893	1.00[ASN][1000 genomes]
rs1505347	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16848225	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848312	1.00[ASN][1000 genomes]
rs17346713	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346754	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346933	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418640	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418647	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418661	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418814	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945683	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945692	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945697	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945699	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945702	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947355	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1004823	chr2:213052804-213181263	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv536138	chr2:213052804-213181263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv998615	chr2:213081893-213202228	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv536139	chr2:213081893-213202228	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv834526	chr2:213114901-213237146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1011111	chr2:213116621-213178740	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv460075	chr2:213117976-213192660	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv584348	chr2:213117976-213192660	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv584349	chr2:213117976-213200920	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv875808	chr2:213120523-213183696	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv875809	chr2:213122718-213221111	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv460078	chr2:213130571-213192660	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv584352	chr2:213130571-213192660	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
18	nsv584353	chr2:213136747-213191389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
19	nsv875810	chr2:213136747-213200920	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv460079	chr2:213136747-213209659	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv584354	chr2:213136747-213209659	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
22	nsv584355	chr2:213136747-213211067	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
24	nsv460080	chr2:213151230-213191389	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv584356	chr2:213151230-213191389	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
26	nsv584357	chr2:213151230-213192048	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv460081	chr2:213155534-213191389	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
28	nsv460082	chr2:213155534-213191389	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv584358	chr2:213155534-213191389	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv527162	chr2:213155534-213192048	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
31	nsv584359	chr2:213155534-213192660	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv584360	chr2:213155534-213200920	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
33	nsv584361	chr2:213155534-213209659	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv1006023	chr2:213157866-213187260	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv1002211	chr2:213158685-213191813	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
36	nsv1010294	chr2:213162156-213194322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
37	nsv1014565	chr2:213164466-213194322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
38	nsv1011709	chr2:213164561-213176634	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
39	nsv1007797	chr2:213164792-213178740	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
40	nsv1001656	chr2:213164792-213181315	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
41	nsv1001252	chr2:213164792-213191813	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
42	nsv460083	chr2:213164837-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
43	nsv460085	chr2:213164837-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
44	nsv584362	chr2:213164837-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
45	nsv460086	chr2:213164837-213209659	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
46	nsv584363	chr2:213164837-213209659	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
47	nsv584364	chr2:213165193-213191389	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
48	nsv460087	chr2:213165193-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
49	nsv460088	chr2:213165193-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
50	nsv584365	chr2:213165193-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213171000-213172000	Enhancers	Adipose Nuclei	Adipose
3	chr2:213171000-213172400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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