Variant report

Variant	rs796522
Chromosome Location	chr12:67758081-67758082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67757297..67760146-chr12:67769461..67771948,2	MCF-7	breast:
2	chr12:67757385..67758174-chr12:67809023..67809874,3	MCF-7	breast:
3	chr12:67756964..67758581-chr12:68620189..68621990,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10506544	0.97[ASN][1000 genomes]
rs1060350	0.90[ASN][1000 genomes]
rs1066389	0.90[ASN][1000 genomes]
rs1066390	0.90[ASN][1000 genomes]
rs1066391	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1066396	0.90[ASN][1000 genomes]
rs1066398	0.90[ASN][1000 genomes]
rs1066399	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1066404	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784619	0.86[ASN][1000 genomes]
rs10784624	0.94[ASN][1000 genomes]
rs1082700	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1082710	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878596	0.89[ASN][1000 genomes]
rs10878601	1.00[ASN][1000 genomes]
rs1092600	0.90[ASN][1000 genomes]
rs1112445	0.97[ASN][1000 genomes]
rs11176647	0.81[ASN][1000 genomes]
rs11176657	0.85[ASN][1000 genomes]
rs11176677	0.90[ASN][1000 genomes]
rs11176683	0.90[ASN][1000 genomes]
rs11176690	0.95[ASN][1000 genomes]
rs11176695	0.97[ASN][1000 genomes]
rs11176700	1.00[ASN][1000 genomes]
rs1125748	0.92[ASN][1000 genomes]
rs1136080	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1137465	0.90[ASN][1000 genomes]
rs1143954	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1143956	0.89[ASN][1000 genomes]
rs1144939	0.93[ASN][1000 genomes]
rs1152877	0.90[ASN][1000 genomes]
rs1152895	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1152896	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152897	0.87[ASN][1000 genomes]
rs1152898	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1152901	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1152902	0.87[ASN][1000 genomes]
rs1161085	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1161087	1.00[ASN][1000 genomes]
rs1161089	0.90[ASN][1000 genomes]
rs1161090	0.90[ASN][1000 genomes]
rs1161092	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1183126	0.93[ASN][1000 genomes]
rs1184743	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1185918	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12366819	0.90[ASN][1000 genomes]
rs12369715	0.97[ASN][1000 genomes]
rs12370954	0.89[ASN][1000 genomes]
rs12422358	0.97[ASN][1000 genomes]
rs12422968	0.90[ASN][1000 genomes]
rs12424158	0.87[ASN][1000 genomes]
rs1252364	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252386	0.97[ASN][1000 genomes]
rs1252387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1252388	0.97[ASN][1000 genomes]
rs1252402	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252405	0.87[ASN][1000 genomes]
rs1252407	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252419	0.89[ASN][1000 genomes]
rs1252422	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1252424	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12580790	0.87[ASN][1000 genomes]
rs1272089	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1392587	0.89[ASN][1000 genomes]
rs1500431	0.95[ASN][1000 genomes]
rs1561333	0.93[ASN][1000 genomes]
rs1583648	0.95[ASN][1000 genomes]
rs1612693	0.94[ASN][1000 genomes]
rs1697232	0.90[ASN][1000 genomes]
rs1697233	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17781745	0.93[ASN][1000 genomes]
rs1921000	1.00[ASN][1000 genomes]
rs1985476	0.93[ASN][1000 genomes]
rs2028213	0.90[ASN][1000 genomes]
rs2091698	0.89[ASN][1000 genomes]
rs2118311	0.95[ASN][1000 genomes]
rs2118533	0.93[ASN][1000 genomes]
rs2178466	0.95[ASN][1000 genomes]
rs2248751	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438109	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2576941	0.89[ASN][1000 genomes]
rs3861890	0.85[ASN][1000 genomes]
rs4913538	0.89[ASN][1000 genomes]
rs4913540	0.90[ASN][1000 genomes]
rs4913541	0.95[ASN][1000 genomes]
rs61918267	0.88[ASN][1000 genomes]
rs61920672	0.87[ASN][1000 genomes]
rs698123	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs710626	0.86[ASN][1000 genomes]
rs710627	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs710628	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs710629	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs710630	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs710800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134743	0.97[ASN][1000 genomes]
rs775306	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775309	0.89[ASN][1000 genomes]
rs775312	0.89[ASN][1000 genomes]
rs775644	0.95[ASN][1000 genomes]
rs775645	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775651	1.00[ASN][1000 genomes]
rs775652	1.00[ASN][1000 genomes]
rs775655	1.00[ASN][1000 genomes]
rs775660	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7968645	0.87[ASN][1000 genomes]
rs7973565	0.86[ASN][1000 genomes]
rs7977430	0.90[ASN][1000 genomes]
rs811820	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs811827	0.87[ASN][1000 genomes]
rs814290	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs796522	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67741800-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67753400-67764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:67753600-67758600	Weak transcription	Osteobl	bone
5	chr12:67753600-67759400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:67753600-67759600	Weak transcription	NHLF	lung
7	chr12:67753800-67759200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:67753800-67759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:67753800-67759200	Weak transcription	HSMM	muscle
10	chr12:67757600-67758400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:67757600-67758600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:67757600-67760800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:67757800-67758400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:67758000-67758200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr12:67758000-67758200	Enhancers	Fetal Lung	lung
16	chr12:67758000-67758400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:67758000-67758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:67758000-67758400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:67758000-67758600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:67758000-67759400	Enhancers	NH-A	brain

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