Variant report

Variant	rs4767980
Chromosome Location	chr12:40900513-40900514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1122621	1.00[ASN][1000 genomes]
rs1122863	1.00[ASN][1000 genomes]
rs11564109	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829565	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835808	1.00[ASN][1000 genomes]
rs1492328	1.00[ASN][1000 genomes]
rs1492329	1.00[ASN][1000 genomes]
rs1492337	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492338	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128391	1.00[ASN][1000 genomes]
rs17128416	1.00[ASN][1000 genomes]
rs17532278	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17533321	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598093	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598156	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844979	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844982	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873674	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768261	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768265	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768276	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4768287	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768288	1.00[ASN][1000 genomes]
rs55642775	1.00[ASN][1000 genomes]
rs55649806	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55818225	1.00[ASN][1000 genomes]
rs56036709	1.00[ASN][1000 genomes]
rs56211973	1.00[ASN][1000 genomes]
rs56226314	1.00[ASN][1000 genomes]
rs56952712	1.00[ASN][1000 genomes]
rs57161116	1.00[ASN][1000 genomes]
rs59005564	1.00[ASN][1000 genomes]
rs59095251	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59367732	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094611	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100423	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100426	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73100438	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106618	1.00[ASN][1000 genomes]
rs73106620	1.00[ASN][1000 genomes]
rs73106623	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73112007	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73112026	1.00[ASN][1000 genomes]
rs73114284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116206	1.00[ASN][1000 genomes]
rs73119908	0.89[ASN][1000 genomes]
rs7315186	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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

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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