Variant report

Variant	rs1152900
Chromosome Location	chr12:67669254-67669255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67668479..67670313-chr12:67704698..67706848,2	K562	blood:
2	chr12:67479380..67480285-chr12:67669243..67670001,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10506545	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1066387	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1066388	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1066394	0.88[AFR][1000 genomes]
rs1066395	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784625	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1082701	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1082702	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1082708	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1082709	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1082711	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1092475	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176678	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1143758	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1143947	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1143948	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1161088	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1161092	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1177317	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252406	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252414	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1252423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1272090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1500433	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1561334	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1621634	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1658780	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985475	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2438108	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs710622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710623	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710797	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs710798	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs710801	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs775308	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs775310	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs775628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs775634	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs775635	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs775646	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775647	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775648	0.82[AFR][1000 genomes]
rs775650	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775653	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775654	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775656	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs775657	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs775658	1.00[ASN][1000 genomes]
rs775659	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs775661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs775662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957112	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7962358	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7962587	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs796508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976111	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs800166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs800167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs812326	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs983630	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
rs1152900	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664400-67669400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
5	chr12:67665200-67669400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:67665200-67670600	Weak transcription	Brain Angular Gyrus	brain
7	chr12:67665200-67671200	Weak transcription	Right Atrium	heart
8	chr12:67665200-67671800	Weak transcription	Esophagus	oesophagus
9	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
13	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
18	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:67665400-67669600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:67665400-67670200	Weak transcription	HSMMtube	muscle
22	chr12:67665400-67671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:67665600-67669800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:67665600-67672000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:67665600-67672000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:67666000-67670000	Weak transcription	Fetal Stomach	stomach
30	chr12:67666000-67670200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:67666000-67671000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:67666000-67671200	Weak transcription	Fetal Brain Female	brain
33	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
34	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:67666400-67669400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:67666400-67670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:67666600-67669800	Enhancers	Small Intestine	intestine
38	chr12:67666600-67670600	Weak transcription	Fetal Brain Male	brain
39	chr12:67666600-67671800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:67666800-67669400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:67666800-67669400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:67666800-67669400	Weak transcription	Adipose Nuclei	Adipose
43	chr12:67666800-67670400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:67666800-67676200	Weak transcription	Fetal Intestine Large	intestine
45	chr12:67667000-67669600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:67667000-67670600	Strong transcription	Fetal Thymus	thymus
47	chr12:67667000-67671400	Enhancers	Colon Smooth Muscle	Colon
48	chr12:67667200-67669400	Weak transcription	Brain Germinal Matrix	brain
49	chr12:67667200-67669400	Weak transcription	NH-A	brain
50	chr12:67667200-67672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links