Variant report

Variant	rs6580750
Chromosome Location	chr12:50820786-50820787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50819049..50821406-chr12:50835260..50836787,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10083076	0.81[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	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]
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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4334109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][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	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];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	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
2	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
3	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:50797200-50823800	Weak transcription	NH-A	brain
8	chr12:50797600-50822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial
10	chr12:50797600-50826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:50797600-50829600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:50798400-50822400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:50798400-50824000	Weak transcription	Fetal Kidney	kidney
14	chr12:50803200-50823200	Weak transcription	Small Intestine	intestine
15	chr12:50807200-50824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:50807400-50822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:50808200-50824000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
19	chr12:50810400-50821600	Weak transcription	Dnd41	blood
20	chr12:50810400-50821800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:50810400-50822400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:50810600-50821600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:50810600-50823400	Weak transcription	Ovary	ovary
24	chr12:50810600-50823600	Weak transcription	HepG2	liver
25	chr12:50810600-50824000	Weak transcription	Gastric	stomach
26	chr12:50810600-50824200	Weak transcription	Colonic Mucosa	Colon
27	chr12:50810600-50824400	Weak transcription	NHLF	lung
28	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
29	chr12:50810800-50821600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:50810800-50821600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:50810800-50821800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:50810800-50822200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:50810800-50822400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:50811000-50822600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:50811000-50822800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:50811200-50821600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:50811200-50822000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:50812000-50827600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:50812400-50823200	Weak transcription	NHEK	skin
40	chr12:50812800-50821600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:50812800-50821600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:50812800-50821600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:50812800-50821600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:50813000-50822200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:50813200-50822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:50813200-50823000	Weak transcription	Thymus	Thymus
47	chr12:50813400-50822800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:50813400-50822800	Weak transcription	HMEC	breast
49	chr12:50813400-50825600	Weak transcription	Primary T cells from cord blood	blood
50	chr12:50813600-50821600	Weak transcription	Fetal Intestine Large	intestine

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