Variant report

Variant	rs10785330
Chromosome Location	chr12:42525208-42525209
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	chr12:42524054..42526353-chr12:42526883..42528926,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10785326	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10785327	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880238	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880239	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880242	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880253	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880254	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181330	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181333	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3990966	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582381	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582382	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582383	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582384	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67706143	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7133752	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135456	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135595	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135851	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136450	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137522	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296707	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297464	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297971	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298106	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7959852	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964383	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738145	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9739472	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
3	chr12:42505800-42537000	Weak transcription	Lung	lung
4	chr12:42512000-42537400	Weak transcription	Ovary	ovary
5	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
6	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:42519000-42537000	Weak transcription	Right Atrium	heart
9	chr12:42519200-42529000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:42519200-42537400	Weak transcription	Small Intestine	intestine
11	chr12:42519600-42526600	Weak transcription	HepG2	liver
12	chr12:42519600-42528400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:42519600-42537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:42519800-42529000	Weak transcription	GM12878-XiMat	blood
15	chr12:42519800-42536800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:42519800-42537000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:42522600-42537000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:42522800-42528400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:42523600-42525600	Enhancers	HUVEC	blood vessel
20	chr12:42523600-42525800	Enhancers	Liver	Liver
21	chr12:42523800-42525600	Enhancers	NHLF	lung
22	chr12:42524000-42525400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:42524000-42537200	Weak transcription	Aorta	Aorta
24	chr12:42524200-42525400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:42524200-42525600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:42524400-42525400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:42524400-42525400	Flanking Active TSS	NHEK	skin
28	chr12:42524400-42525400	Flanking Active TSS	Osteobl	bone
29	chr12:42524600-42525400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:42524600-42525400	Enhancers	Stomach Mucosa	stomach
31	chr12:42524600-42525400	Flanking Active TSS	A549	lung
32	chr12:42524600-42537000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:42524800-42525400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:42524800-42525400	Enhancers	Right Ventricle	heart
35	chr12:42524800-42534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:42524800-42537000	Weak transcription	Fetal Kidney	kidney
37	chr12:42524800-42537000	Weak transcription	Gastric	stomach
38	chr12:42524800-42537200	Weak transcription	Left Ventricle	heart
39	chr12:42524800-42537200	Weak transcription	Psoas Muscle	Psoas
40	chr12:42525000-42525400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:42525000-42525400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:42525000-42525400	Enhancers	Brain Substantia Nigra	brain
43	chr12:42525000-42525600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:42525000-42525600	Enhancers	Hela-S3	cervix
45	chr12:42525000-42525600	Enhancers	HSMM	muscle
46	chr12:42525000-42525600	Enhancers	NHDF-Ad	bronchial
47	chr12:42525000-42525800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:42525000-42525800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:42525000-42528800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:42525000-42529000	Weak transcription	Adipose Nuclei	Adipose

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