Variant report

Variant	rs10783360
Chromosome Location	chr12:50823225-50823226
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	chr12:50812613..50814185-chr12:50823081..50825818,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12099439	1.00[AMR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321739	1.00[AMR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2684907	1.00[EUR][1000 genomes]
rs2700481	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731441	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7295187	0.86[AFR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9804978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
2	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:50797200-50823800	Weak transcription	NH-A	brain
4	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial
5	chr12:50797600-50826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:50797600-50829600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:50798400-50824000	Weak transcription	Fetal Kidney	kidney
8	chr12:50807200-50824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:50808200-50824000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
11	chr12:50810600-50823400	Weak transcription	Ovary	ovary
12	chr12:50810600-50823600	Weak transcription	HepG2	liver
13	chr12:50810600-50824000	Weak transcription	Gastric	stomach
14	chr12:50810600-50824200	Weak transcription	Colonic Mucosa	Colon
15	chr12:50810600-50824400	Weak transcription	NHLF	lung
16	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
17	chr12:50812000-50827600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:50813400-50825600	Weak transcription	Primary T cells from cord blood	blood
19	chr12:50815800-50834400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:50819000-50824400	Strong transcription	K562	blood
21	chr12:50819200-50827200	Strong transcription	Fetal Intestine Small	intestine
22	chr12:50819200-50830200	Strong transcription	Fetal Stomach	stomach
23	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:50819400-50823400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:50819600-50823600	Weak transcription	Lung	lung
26	chr12:50819600-50823800	Weak transcription	Right Ventricle	heart
27	chr12:50819600-50824000	Weak transcription	Spleen	Spleen
28	chr12:50819800-50830000	Weak transcription	Fetal Heart	heart
29	chr12:50819800-50842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:50820000-50823600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:50820000-50823800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:50820000-50824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:50820000-50824600	Weak transcription	GM12878-XiMat	blood
35	chr12:50820000-50831600	Weak transcription	Psoas Muscle	Psoas
36	chr12:50820000-50835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:50820000-50835600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:50820000-50841400	Weak transcription	Esophagus	oesophagus
39	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
40	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:50820200-50823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:50820200-50824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:50820200-50824000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:50820200-50824000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:50820200-50824000	Weak transcription	HUVEC	blood vessel
46	chr12:50820200-50824200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:50820200-50835200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:50820400-50823600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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