Variant report

Variant	rs4768283
Chromosome Location	chr12:40906287-40906288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:
2	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11564104	1.00[AFR][1000 genomes]
rs11564125	1.00[AFR][1000 genomes]
rs11564145	1.00[AFR][1000 genomes]
rs11564164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11564165	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11564170	1.00[AFR][1000 genomes]
rs11564229	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11564231	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11564249	1.00[AFR][1000 genomes]
rs11564253	1.00[AFR][1000 genomes]
rs11564255	1.00[AFR][1000 genomes]
rs11564258	1.00[AFR][1000 genomes]
rs11564259	1.00[AFR][1000 genomes]
rs11564264	1.00[AFR][1000 genomes]
rs11564266	1.00[AFR][1000 genomes]
rs12422278	1.00[AFR][1000 genomes]
rs12422390	1.00[AFR][1000 genomes]
rs12422527	1.00[AFR][1000 genomes]
rs12423566	1.00[AFR][1000 genomes]
rs12424424	1.00[AFR][1000 genomes]
rs12425677	1.00[AFR][1000 genomes]
rs12425678	1.00[AFR][1000 genomes]
rs12426903	1.00[AFR][1000 genomes]
rs12427207	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1365762	1.00[AFR][1000 genomes]
rs1365768	1.00[AFR][1000 genomes]
rs1373442	1.00[AFR][1000 genomes]
rs17128353	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128369	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17128387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17128457	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128481	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17444626	1.00[AFR][1000 genomes]
rs17444646	1.00[AFR][1000 genomes]
rs17444667	1.00[AFR][1000 genomes]
rs17444681	1.00[AFR][1000 genomes]
rs17444688	1.00[AFR][1000 genomes]
rs17444702	1.00[AFR][1000 genomes]
rs17444744	1.00[AFR][1000 genomes]
rs17444751	1.00[AFR][1000 genomes]
rs17444765	1.00[AFR][1000 genomes]
rs17466893	1.00[AFR][1000 genomes]
rs17466907	1.00[AFR][1000 genomes]
rs17466969	1.00[AFR][1000 genomes]
rs17467039	1.00[AFR][1000 genomes]
rs17467081	1.00[AFR][1000 genomes]
rs17467095	1.00[AFR][1000 genomes]
rs17467102	1.00[AFR][1000 genomes]
rs17467109	1.00[AFR][1000 genomes]
rs17467137	1.00[AFR][1000 genomes]
rs17467144	1.00[AFR][1000 genomes]
rs17467164	1.00[AFR][1000 genomes]
rs17467263	1.00[AFR][1000 genomes]
rs17467284	1.00[AFR][1000 genomes]
rs17484541	1.00[AFR][1000 genomes]
rs17492152	1.00[AFR][1000 genomes]
rs17497443	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1844978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs1867435	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2017917	1.00[AFR][1000 genomes]
rs2114566	1.00[AFR][1000 genomes]
rs35462920	1.00[AFR][1000 genomes]
rs35850095	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3789329	1.00[AFR][1000 genomes]
rs3899332	1.00[AFR][1000 genomes]
rs3909731	1.00[AFR][1000 genomes]
rs4767979	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768248	1.00[AFR][1000 genomes]
rs4768249	1.00[AFR][1000 genomes]
rs4768251	1.00[AFR][1000 genomes]
rs4768252	1.00[AFR][1000 genomes]
rs4768253	1.00[AFR][1000 genomes]
rs4768254	1.00[AFR][1000 genomes]
rs4768264	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768268	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768286	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5015147	1.00[AFR][1000 genomes]
rs5015148	1.00[AFR][1000 genomes]
rs5015149	1.00[AFR][1000 genomes]
rs61736852	1.00[AFR][1000 genomes]
rs7485401	1.00[AFR][1000 genomes]
rs7487209	1.00[AFR][1000 genomes]
rs7487333	1.00[AFR][1000 genomes]
rs7488685	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7489023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs971616	1.00[AFR][1000 genomes]
rs971617	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3417437	chr12:40900070-40907460	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3351748	chr12:40905885-40909783	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	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	chr12:40905800-40908000	Weak transcription	GM12878-XiMat	blood

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