Variant report

Variant	rs1066399
Chromosome Location	chr12:67721193-67721194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67716222..67717888-chr12:67718984..67721962,2	MCF-7	breast:
2	chr12:67707079..67709730-chr12:67721053..67723374,2	K562	blood:
3	chr12:67681823..67684693-chr12:67719727..67722113,2	K562	blood:
4	chr12:67714913..67718592-chr12:67718971..67722103,3	K562	blood:
5	chr12:67713525..67718128-chr12:67719850..67722693,5	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10506544	0.93[ASN][1000 genomes]
rs1060350	1.00[ASN][1000 genomes]
rs1066389	1.00[ASN][1000 genomes]
rs1066390	1.00[ASN][1000 genomes]
rs1066391	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1066396	1.00[ASN][1000 genomes]
rs1066398	1.00[ASN][1000 genomes]
rs1066404	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10680893	0.81[ASN][1000 genomes]
rs10784619	0.96[ASN][1000 genomes]
rs10784624	0.85[ASN][1000 genomes]
rs1082700	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1082710	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878596	0.98[ASN][1000 genomes]
rs10878601	0.90[ASN][1000 genomes]
rs1092600	1.00[ASN][1000 genomes]
rs1112445	0.93[ASN][1000 genomes]
rs11176647	0.91[ASN][1000 genomes]
rs11176657	0.95[ASN][1000 genomes]
rs11176677	1.00[ASN][1000 genomes]
rs11176683	1.00[ASN][1000 genomes]
rs11176690	0.95[ASN][1000 genomes]
rs11176695	0.93[ASN][1000 genomes]
rs11176700	0.90[ASN][1000 genomes]
rs1125748	0.82[ASN][1000 genomes]
rs1136080	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1137465	1.00[ASN][1000 genomes]
rs1143954	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1143956	0.98[ASN][1000 genomes]
rs1144939	0.97[ASN][1000 genomes]
rs1152877	1.00[ASN][1000 genomes]
rs1152895	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1152896	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152897	0.97[ASN][1000 genomes]
rs1152898	0.96[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152901	0.96[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152902	0.97[ASN][1000 genomes]
rs1161085	0.96[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161087	0.90[ASN][1000 genomes]
rs1161089	1.00[ASN][1000 genomes]
rs1161090	1.00[ASN][1000 genomes]
rs1161092	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1183126	0.97[ASN][1000 genomes]
rs1184743	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1185918	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12366819	1.00[ASN][1000 genomes]
rs12369715	0.93[ASN][1000 genomes]
rs12370954	0.99[ASN][1000 genomes]
rs12422358	0.93[ASN][1000 genomes]
rs12422968	1.00[ASN][1000 genomes]
rs12424158	0.97[ASN][1000 genomes]
rs1252364	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252386	0.93[ASN][1000 genomes]
rs1252387	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252388	0.93[ASN][1000 genomes]
rs1252402	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252405	0.97[ASN][1000 genomes]
rs1252407	0.96[CEU][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252419	0.98[ASN][1000 genomes]
rs1252422	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1252424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580790	0.97[ASN][1000 genomes]
rs1272089	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1392587	0.98[ASN][1000 genomes]
rs1500431	0.95[ASN][1000 genomes]
rs1561333	0.83[ASN][1000 genomes]
rs1583648	0.95[ASN][1000 genomes]
rs1612693	0.94[ASN][1000 genomes]
rs1697232	0.97[ASN][1000 genomes]
rs1697233	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17781745	0.97[ASN][1000 genomes]
rs1921000	0.90[ASN][1000 genomes]
rs1985476	0.83[ASN][1000 genomes]
rs2028213	1.00[ASN][1000 genomes]
rs2091698	0.99[ASN][1000 genomes]
rs2118311	0.95[ASN][1000 genomes]
rs2118533	0.83[ASN][1000 genomes]
rs2178466	0.85[ASN][1000 genomes]
rs2248751	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438109	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2576941	0.98[ASN][1000 genomes]
rs3736630	0.84[YRI][hapmap]
rs3861890	0.95[ASN][1000 genomes]
rs4913538	0.98[ASN][1000 genomes]
rs4913540	1.00[ASN][1000 genomes]
rs4913541	0.95[ASN][1000 genomes]
rs61918267	0.97[ASN][1000 genomes]
rs61920672	0.97[ASN][1000 genomes]
rs698123	0.96[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs710626	0.96[ASN][1000 genomes]
rs710627	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs710628	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs710629	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs710630	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710800	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134743	0.93[ASN][1000 genomes]
rs775306	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775309	0.98[ASN][1000 genomes]
rs775312	0.98[ASN][1000 genomes]
rs775644	0.95[ASN][1000 genomes]
rs775645	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs775651	0.90[ASN][1000 genomes]
rs775652	0.90[ASN][1000 genomes]
rs775655	0.90[ASN][1000 genomes]
rs775660	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs796522	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7968645	0.97[ASN][1000 genomes]
rs7973565	0.96[ASN][1000 genomes]
rs7977430	1.00[ASN][1000 genomes]
rs811820	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs811827	0.97[ASN][1000 genomes]
rs814290	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1066399	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67711200-67721400	Weak transcription	Fetal Brain Female	brain
2	chr12:67713400-67725000	Weak transcription	Dnd41	blood
3	chr12:67716600-67732000	Weak transcription	HMEC	breast
4	chr12:67716600-67748000	Weak transcription	HSMM	muscle
5	chr12:67717000-67721400	Weak transcription	Thymus	Thymus
6	chr12:67717400-67731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:67720800-67721200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:67720800-67721400	Enhancers	Fetal Muscle Leg	muscle
9	chr12:67720800-67721800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:67721000-67721600	Enhancers	Psoas Muscle	Psoas

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