Variant report

Variant	esv3332225
Chromosome Location	chr12:50508492-50509046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
2	chr12:50504100..50507417-chr12:50508424..50511962,5	MCF-7	breast:
3	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:
4	chr12:50504789..50507930-chr12:50509010..50512332,8	MCF-7	breast:
5	chr12:50506976..50509315-chr12:50512886..50514757,3	K562	blood:
6	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:

Variant related genes	Relation type
ENSG00000139624	chromatin interactions
ENSG00000178449	chromatin interactions
ENSG00000272368	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75257472	chr12:50508532-50508533	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs71083507	chr12:50508582-50508583	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550654675	chr12:50508583-50508584	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs398019495	chr12:50508584-50508585	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs551045590	chr12:50508587-50508588	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs11169274	chr12:50508606-50508607	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201735011	chr12:50508609-50508610	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565184572	chr12:50508614-50508615	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77530108	chr12:50508676-50508677	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571147486	chr12:50508685-50508686	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536841820	chr12:50508732-50508733	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556688611	chr12:50508753-50508754	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189189617	chr12:50508778-50508779	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545838012	chr12:50508851-50508852	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567456265	chr12:50508855-50508856	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536520407	chr12:50508857-50508858	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12312426	chr12:50508867-50508868	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12579777	chr12:50508873-50508874	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555508824	chr12:50508937-50508938	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs55861178	chr12:50508992-50508993	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572391972	chr12:50509000-50509001	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79630699	chr12:50509016-50509017	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534848917	chr12:50509020-50509021	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143090144	chr12:50509021-50509022	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12305438	chr12:50509022-50509023	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50506800-50521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:50507000-50508600	Enhancers	Colon Smooth Muscle	Colon
4	chr12:50507000-50508800	Enhancers	Adipose Nuclei	Adipose
5	chr12:50507000-50509200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:50507000-50509200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:50507000-50509200	Weak transcription	Gastric	stomach
8	chr12:50507000-50509400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50507000-50510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:50507000-50510200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:50507000-50510400	Weak transcription	HSMMtube	muscle
12	chr12:50507000-50513000	Weak transcription	Esophagus	oesophagus
13	chr12:50507000-50513200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:50507000-50513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:50507000-50513600	Weak transcription	Fetal Kidney	kidney
16	chr12:50507000-50513800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:50507000-50520800	Weak transcription	Fetal Lung	lung
18	chr12:50507000-50520800	Weak transcription	NH-A	brain
19	chr12:50507000-50522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:50507000-50522800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:50507000-50522800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:50507000-50523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
25	chr12:50507200-50508600	Enhancers	Liver	Liver
26	chr12:50507200-50508600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:50507200-50508600	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:50507200-50508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:50507200-50508800	Enhancers	Right Ventricle	heart
30	chr12:50507200-50509000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:50507200-50509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:50507200-50509400	Weak transcription	HSMM	muscle
33	chr12:50507200-50509600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:50507200-50510000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:50507200-50510200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:50507200-50510200	Weak transcription	NHEK	skin
37	chr12:50507200-50510400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:50507200-50512600	Weak transcription	HMEC	breast
39	chr12:50507200-50512800	Weak transcription	Brain Germinal Matrix	brain
40	chr12:50507200-50513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:50507200-50513000	Weak transcription	Osteobl	bone
42	chr12:50507200-50513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:50507200-50513200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:50507200-50513800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:50507200-50515400	Weak transcription	Fetal Brain Male	brain
46	chr12:50507200-50519000	Weak transcription	HUVEC	blood vessel
47	chr12:50507200-50520800	Weak transcription	NHDF-Ad	bronchial
48	chr12:50507200-50520800	Weak transcription	NHLF	lung
49	chr12:50507200-50521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:50507200-50522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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