Variant report

Variant	rs12468793
Chromosome Location	chr2:141871046-141871047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10195363	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10202287	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10205320	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10205473	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10439181	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10439182	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11688015	0.90[ASN][1000 genomes]
rs12474088	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12611512	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12618109	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12623287	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13391141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16845474	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1882628	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1882629	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1882630	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1882639	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1882640	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1882641	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1922702	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1922703	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1922704	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4954884	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6429865	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6429866	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs66986873	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6750303	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7557732	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7584552	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7584559	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7598110	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7599578	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9287305	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9287306	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9287307	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9287309	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9287310	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9287311	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9287312	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875212	chr2:141796109-141877201	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv875215	chr2:141800473-141877201	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv875216	chr2:141800473-141905052	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875217	chr2:141800473-141919943	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875218	chr2:141800473-141925845	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1003799	chr2:141803314-142033675	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv875219	chr2:141803602-141877201	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv459563	chr2:141803602-141925075	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv583200	chr2:141803602-141925075	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv875220	chr2:141819422-141882963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv875221	chr2:141826948-141877201	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv875222	chr2:141826948-141887814	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv875223	chr2:141826948-141905052	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1009434	chr2:141832339-142156180	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv875224	chr2:141841920-141877201	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv875225	chr2:141841920-141919943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv875226	chr2:141841920-141921632	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv875227	chr2:141841920-141928275	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv875228	chr2:141841920-141949292	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1005236	chr2:141860005-142047695	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv535948	chr2:141860005-142047695	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv459585	chr2:141867448-141921632	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv583202	chr2:141867448-141921632	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141867600-141871600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:141868200-141871600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:141870000-141872200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:141871000-141871200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:141871000-141871800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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