Variant report

Variant	nsv983323
Chromosome Location	chr12:51518356-51519057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51475824..51478649-chr12:51516706..51519135,3	MCF-7	breast:
2	chr12:51516030..51518469-chr12:51520883..51522469,2	K562	blood:
3	chr12:51476664..51478784-chr12:51519007..51521110,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576588693	chr12:51518371-51518372	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568067862	chr12:51518380-51518381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535730085	chr12:51518388-51518389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556094054	chr12:51518392-51518393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34354485	chr12:51518393-51518394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78208051	chr12:51518401-51518402	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541424165	chr12:51518402-51518403	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564503236	chr12:51518411-51518412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs578126033	chr12:51518415-51518416	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543910017	chr12:51518419-51518420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563295730	chr12:51518420-51518421	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185116984	chr12:51518429-51518430	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192108943	chr12:51518450-51518451	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559211768	chr12:51518464-51518465	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17855449	chr12:51518487-51518488	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550939357	chr12:51518506-51518507	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113164317	chr12:51518517-51518518	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570931261	chr12:51518540-51518541	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189226890	chr12:51518553-51518554	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs114452028	chr12:51518596-51518597	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369032367	chr12:51518613-51518614	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138860334	chr12:51518636-51518637	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191525048	chr12:51518708-51518709	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183122250	chr12:51518733-51518734	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572756479	chr12:51518740-51518741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550656364	chr12:51518765-51518766	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3751275	chr12:51518787-51518788	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140675553	chr12:51518799-51518800	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113765107	chr12:51518809-51518810	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145864920	chr12:51518814-51518815	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537690672	chr12:51518824-51518825	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563798181	chr12:51518838-51518839	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574088625	chr12:51518856-51518857	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138470195	chr12:51518868-51518869	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375610939	chr12:51518919-51518920	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528340851	chr12:51518920-51518921	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559176172	chr12:51518931-51518932	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577648072	chr12:51518964-51518965	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371528025	chr12:51518999-51519000	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544912474	chr12:51519008-51519009	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376065052	chr12:51519035-51519036	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
3	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51494800-51518400	Weak transcription	Aorta	Aorta
7	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:51501800-51518400	Weak transcription	Spleen	Spleen
10	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
11	chr12:51502600-51518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51503000-51518400	Weak transcription	NHLF	lung
14	chr12:51503200-51518600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
16	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:51504400-51518400	Weak transcription	Ovary	ovary
18	chr12:51504800-51518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:51504800-51518600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:51504800-51518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:51507600-51519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:51509600-51520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:51509800-51518600	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:51510200-51518400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:51510200-51518400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:51510200-51518600	Weak transcription	Brain Anterior Caudate	brain
31	chr12:51510200-51518600	Weak transcription	NHDF-Ad	bronchial
32	chr12:51510200-51519200	Weak transcription	Fetal Heart	heart
33	chr12:51510200-51520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:51510200-51554400	Weak transcription	K562	blood
37	chr12:51511400-51518400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:51511400-51518400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:51511400-51518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:51511400-51518600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:51511400-51520800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:51511400-51531400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:51512600-51518600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:51512600-51519200	Weak transcription	Small Intestine	intestine
46	chr12:51512800-51518600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:51512800-51519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:51513000-51518600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:51513000-51520200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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