Variant report

Variant	rs7955266
Chromosome Location	chr12:67781859-67781860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10506544	0.82[JPT][hapmap]
rs10506545	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1060350	0.87[JPT][hapmap]
rs1066387	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1066388	0.82[ASN][1000 genomes]
rs1066395	0.82[ASN][1000 genomes]
rs1066404	0.87[JPT][hapmap]
rs10784625	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1082701	0.82[ASN][1000 genomes]
rs1082702	0.82[ASN][1000 genomes]
rs1082708	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1082709	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1082711	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10878601	0.94[JPT][hapmap]
rs1092475	0.80[AMR][1000 genomes]
rs1112445	0.82[JPT][hapmap]
rs11176678	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11176683	0.87[JPT][hapmap]
rs11176700	0.82[JPT][hapmap]
rs1125748	0.86[EUR][1000 genomes]
rs1136080	0.82[JPT][hapmap]
rs1143758	0.81[CEU][hapmap]
rs1143947	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1143948	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1143954	0.82[JPT][hapmap]
rs1143956	0.82[JPT][hapmap]
rs1152877	0.87[JPT][hapmap]
rs1152895	0.82[JPT][hapmap]
rs1152896	0.87[JPT][hapmap]
rs1152897	0.82[JPT][hapmap]
rs1152898	0.82[JPT][hapmap]
rs1152901	0.82[JPT][hapmap]
rs1152902	0.87[JPT][hapmap]
rs1161088	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1161092	0.81[ASN][1000 genomes]
rs1177317	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12424158	0.87[JPT][hapmap]
rs1252386	0.82[JPT][hapmap]
rs1252387	0.82[JPT][hapmap]
rs1252388	0.81[JPT][hapmap]
rs1252402	0.87[JPT][hapmap]
rs1252405	0.87[JPT][hapmap]
rs1252406	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1252407	0.82[JPT][hapmap]
rs1252414	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252423	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1252424	0.82[JPT][hapmap]
rs12580790	0.87[JPT][hapmap]
rs1272090	0.82[ASN][1000 genomes]
rs1392587	0.87[JPT][hapmap]
rs1561334	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1658780	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1697233	0.82[JPT][hapmap]
rs1985475	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1985476	0.82[JPT][hapmap]
rs2028213	0.82[JPT][hapmap]
rs4913538	0.87[JPT][hapmap]
rs698123	0.87[JPT][hapmap]
rs710622	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs710623	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs710630	0.82[JPT][hapmap]
rs710798	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs710801	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs775307	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs775310	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs775312	0.82[JPT][hapmap]
rs775628	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs775634	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs775645	0.87[JPT][hapmap]
rs775646	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775647	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775650	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775651	0.82[JPT][hapmap]
rs775653	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775654	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775656	0.90[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775657	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs775660	0.82[JPT][hapmap]
rs775662	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7957112	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7962358	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962587	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7968979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7973565	0.87[JPT][hapmap]
rs7976111	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977430	0.82[JPT][hapmap]
rs800166	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs800167	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs811827	0.82[JPT][hapmap]
rs812325	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs812326	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs983630	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[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
rs7955266	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 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
8	chr12:67781000-67782400	Weak transcription	Fetal Kidney	kidney
9	chr12:67781400-67783400	Enhancers	Fetal Thymus	thymus
10	chr12:67781400-67784400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:67781600-67784200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:67781800-67783400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:67781800-67783400	Enhancers	Dnd41	blood
14	chr12:67781800-67784200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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