Variant report

Variant	rs2638883
Chromosome Location	chr12:40901045-40901046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1444214	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1444217	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1444222	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1492313	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1492320	0.81[ASN][1000 genomes]
rs1492322	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1826383	0.81[AFR][1000 genomes]
rs1838351	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2251431	0.81[ASN][1000 genomes]
rs2405077	0.81[ASN][1000 genomes]
rs2452314	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2452315	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588393	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2588394	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2588401	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588402	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588411	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2638862	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2638863	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2638864	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2638865	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2638867	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638869	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2638875	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638882	0.92[ASN][1000 genomes]
rs2920827	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2933351	0.81[ASN][1000 genomes]
rs2933355	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2933356	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2933367	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2933373	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2933376	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7139187	0.81[ASN][1000 genomes]
rs719227	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719228	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3519672	chr12:40898422-40907859	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv983435	chr12:40898783-40903918	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3377041	chr12:40898929-40905079	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv9377	chr12:40898931-40905123	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3387261	chr12:40898980-40905120	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3519673	chr12:40898984-40905196	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3519675	chr12:40898984-40905196	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv512268	chr12:40899000-40905722	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3402193	chr12:40899025-40905131	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3431848	chr12:40899046-40902055	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv3447251	chr12:40899046-40905008	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3524253	chr12:40899064-40905070	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3524254	chr12:40899064-40905070	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3349674	chr12:40899126-40905088	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3446930	chr12:40899146-40905058	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3325479	chr12:40899796-40902880	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3417437	chr12:40900070-40907460	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3368262	chr12:40900194-40903219	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3390841	chr12:40900720-40903205	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40899200-40904600	Weak transcription	GM12878-XiMat	blood

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