Variant report

Variant	rs1125748
Chromosome Location	chr12:67780751-67780752
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	chr12:67779762..67781481-chr12:67788045..67789679,2	K562	blood:
2	chr12:67768983..67772429-chr12:67779046..67781779,3	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1027588	0.82[ASN][1000 genomes]
rs1027589	0.82[ASN][1000 genomes]
rs10506544	0.89[ASN][1000 genomes]
rs1060350	0.82[ASN][1000 genomes]
rs1066389	0.82[ASN][1000 genomes]
rs1066390	0.82[ASN][1000 genomes]
rs1066391	0.82[ASN][1000 genomes]
rs1066396	0.82[ASN][1000 genomes]
rs1066398	0.82[ASN][1000 genomes]
rs1066399	0.82[ASN][1000 genomes]
rs10784624	0.97[ASN][1000 genomes]
rs1082700	0.82[ASN][1000 genomes]
rs1082710	0.87[ASN][1000 genomes]
rs10878596	0.81[ASN][1000 genomes]
rs10878601	0.92[ASN][1000 genomes]
rs10878607	0.82[ASN][1000 genomes]
rs10878608	0.82[ASN][1000 genomes]
rs1092600	0.82[ASN][1000 genomes]
rs1112445	0.89[ASN][1000 genomes]
rs11176677	0.82[ASN][1000 genomes]
rs11176683	0.82[ASN][1000 genomes]
rs11176690	0.87[ASN][1000 genomes]
rs11176695	0.89[ASN][1000 genomes]
rs11176700	0.92[ASN][1000 genomes]
rs11176713	0.82[ASN][1000 genomes]
rs11176714	0.82[ASN][1000 genomes]
rs11176721	0.82[ASN][1000 genomes]
rs1136080	0.82[ASN][1000 genomes]
rs1137465	0.82[ASN][1000 genomes]
rs1143954	0.82[ASN][1000 genomes]
rs1143956	0.81[ASN][1000 genomes]
rs1144939	0.85[ASN][1000 genomes]
rs1152877	0.82[ASN][1000 genomes]
rs1152895	0.82[ASN][1000 genomes]
rs1152896	0.81[ASN][1000 genomes]
rs1161085	0.82[ASN][1000 genomes]
rs1161087	0.92[ASN][1000 genomes]
rs1161089	0.82[ASN][1000 genomes]
rs1161090	0.82[ASN][1000 genomes]
rs1183126	0.85[ASN][1000 genomes]
rs1184743	0.85[ASN][1000 genomes]
rs1185918	0.89[ASN][1000 genomes]
rs12366819	0.82[ASN][1000 genomes]
rs12369715	0.89[ASN][1000 genomes]
rs12370954	0.82[ASN][1000 genomes]
rs12422358	0.89[ASN][1000 genomes]
rs12422968	0.82[ASN][1000 genomes]
rs1252364	0.82[ASN][1000 genomes]
rs1252386	0.89[ASN][1000 genomes]
rs1252387	0.89[ASN][1000 genomes]
rs1252388	0.89[ASN][1000 genomes]
rs1252402	0.82[ASN][1000 genomes]
rs1252419	0.81[ASN][1000 genomes]
rs1272089	0.89[ASN][1000 genomes]
rs1392587	0.81[ASN][1000 genomes]
rs1500431	0.87[ASN][1000 genomes]
rs1500434	0.82[ASN][1000 genomes]
rs1561333	0.96[ASN][1000 genomes]
rs1583648	0.87[ASN][1000 genomes]
rs1612693	0.86[ASN][1000 genomes]
rs1697232	0.82[ASN][1000 genomes]
rs1697233	0.81[ASN][1000 genomes]
rs17781745	0.85[ASN][1000 genomes]
rs1921000	0.92[ASN][1000 genomes]
rs1985476	0.99[ASN][1000 genomes]
rs2028213	0.82[ASN][1000 genomes]
rs2091698	0.81[ASN][1000 genomes]
rs2118311	0.87[ASN][1000 genomes]
rs2118533	0.99[ASN][1000 genomes]
rs2178466	0.97[ASN][1000 genomes]
rs2248751	0.81[ASN][1000 genomes]
rs2576941	0.81[ASN][1000 genomes]
rs4913538	0.81[ASN][1000 genomes]
rs4913540	0.82[ASN][1000 genomes]
rs4913541	0.87[ASN][1000 genomes]
rs710630	0.82[ASN][1000 genomes]
rs710800	0.92[ASN][1000 genomes]
rs7134743	0.89[ASN][1000 genomes]
rs7135979	0.82[ASN][1000 genomes]
rs775309	0.81[ASN][1000 genomes]
rs775312	0.81[ASN][1000 genomes]
rs775644	0.87[ASN][1000 genomes]
rs775645	0.89[ASN][1000 genomes]
rs775651	0.92[ASN][1000 genomes]
rs775652	0.92[ASN][1000 genomes]
rs775655	0.92[ASN][1000 genomes]
rs7955266	0.86[EUR][1000 genomes]
rs796522	0.92[ASN][1000 genomes]
rs7968979	0.86[EUR][1000 genomes]
rs7977430	0.82[ASN][1000 genomes]
rs811820	0.81[ASN][1000 genomes]
rs814290	0.81[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
rs1125748	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67771600-67782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67775000-67782200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:67776800-67782200	Weak transcription	HSMMtube	muscle
4	chr12:67779400-67782200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:67780400-67782400	Weak transcription	HSMM	muscle
6	chr12:67780600-67782200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:67780600-67782200	Enhancers	Skeletal Muscle Female	skeletal muscle

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