Variant report

Variant	esv3380248
Chromosome Location	chr12:50270185-50275783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50275093..50276632-chr12:50278592..50280741,2	K562	blood:
2	chr12:50269088..50271373-chr12:50274652..50276581,2	MCF-7	breast:
3	chr12:50272122..50274588-chr12:50280399..50282303,2	MCF-7	breast:
4	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
5	chr12:50261251..50262807-chr12:50275153..50277323,2	MCF-7	breast:
6	chr12:50269088..50271373-chr12:50274652..50276581,2	MCF-7	breast:
7	chr12:50273812..50276593-chr12:50279241..50281059,2	K562	blood:
8	chr12:50275514..50280639-chr12:50281373..50284133,6	MCF-7	breast:
9	chr12:50270045..50272990-chr12:50279975..50282889,2	MCF-7	breast:

No data

Extended variants
information (count: 551 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4898543	chr12:50270187-50270188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569117945	chr12:50270191-50270192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538341856	chr12:50270195-50270196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200192346	chr12:50270196-50270197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554607348	chr12:50270249-50270250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535765944	chr12:50270275-50270276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567517584	chr12:50270282-50270283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143490681	chr12:50270313-50270314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553941565	chr12:50270318-50270319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577504372	chr12:50270325-50270326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs836963	chr12:50270331-50270332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202050600	chr12:50270335-50270336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12146733	chr12:50270364-50270365	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575917523	chr12:50270374-50270375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541926957	chr12:50270380-50270381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149137663	chr12:50270383-50270384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79152692	chr12:50270395-50270396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77216190	chr12:50270396-50270397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76942810	chr12:50270397-50270398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184392278	chr12:50270411-50270412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188828754	chr12:50270416-50270417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73293430	chr12:50270421-50270422	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564264145	chr12:50270427-50270428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533267370	chr12:50270447-50270448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549763841	chr12:50270504-50270505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569249122	chr12:50270519-50270520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531642274	chr12:50270539-50270540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538481385	chr12:50270541-50270542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61926079	chr12:50270551-50270552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187216684	chr12:50270554-50270555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190937297	chr12:50270581-50270582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547592069	chr12:50270666-50270667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369865995	chr12:50270699-50270700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112486148	chr12:50270703-50270704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537404206	chr12:50270714-50270715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180873135	chr12:50270786-50270787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34787189	chr12:50270800-50270801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71441308	chr12:50270822-50270823	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556547289	chr12:50270837-50270838	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374537474	chr12:50270846-50270847	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1893492	chr12:50270855-50270856	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535472973	chr12:50270950-50270951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554149085	chr12:50270957-50270958	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111250015	chr12:50270987-50270988	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1893493	chr12:50271001-50271002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572212461	chr12:50271019-50271020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1248264	chr12:50271045-50271046	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138764686	chr12:50271123-50271124	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141815105	chr12:50271129-50271130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543586095	chr12:50271142-50271143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	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
Melanoma	20877625	CNVD
Cancer	20164919	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50262000-50270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:50263600-50270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:50263800-50271800	Weak transcription	Pancreas	Pancrea
4	chr12:50264600-50271600	Weak transcription	Fetal Brain Male	brain
5	chr12:50266200-50275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:50266800-50271400	Weak transcription	Fetal Brain Female	brain
7	chr12:50267000-50275800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
9	chr12:50268200-50276400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:50268600-50270800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:50268600-50271400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:50268800-50271600	Weak transcription	Fetal Kidney	kidney
13	chr12:50269000-50270400	Strong transcription	Brain Cingulate Gyrus	brain
14	chr12:50269000-50274800	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr12:50269200-50271400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:50269200-50271400	Weak transcription	K562	blood
17	chr12:50269200-50271600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:50269200-50273200	Strong transcription	Brain Angular Gyrus	brain
19	chr12:50269200-50274600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:50269400-50275400	Weak transcription	Fetal Stomach	stomach
21	chr12:50269800-50272000	Strong transcription	Brain Hippocampus Middle	brain
22	chr12:50270000-50276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:50270400-50271200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:50270800-50271000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:50270800-50271400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:50270800-50271800	Strong transcription	Brain Germinal Matrix	brain
27	chr12:50271200-50274600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr12:50271400-50271600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr12:50271400-50272200	Strong transcription	Fetal Brain Female	brain
30	chr12:50271400-50272200	ZNF genes & repeats	K562	blood
31	chr12:50271400-50274600	Strong transcription	Brain Anterior Caudate	brain
32	chr12:50271600-50271800	ZNF genes & repeats	Fetal Brain Male	brain
33	chr12:50271600-50271800	ZNF genes & repeats	Fetal Kidney	kidney
34	chr12:50271600-50274800	Strong transcription	Brain Substantia Nigra	brain
35	chr12:50271800-50272000	Enhancers	Pancreas	Pancrea
36	chr12:50271800-50273200	Strong transcription	Fetal Brain Male	brain
37	chr12:50271800-50273200	Weak transcription	Fetal Kidney	kidney
38	chr12:50271800-50274400	Weak transcription	Brain Germinal Matrix	brain
39	chr12:50272000-50273000	Weak transcription	Pancreas	Pancrea
40	chr12:50272000-50274400	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:50272200-50273000	Weak transcription	Fetal Brain Female	brain
42	chr12:50272800-50273400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:50273000-50273400	Enhancers	Pancreas	Pancrea
44	chr12:50273000-50276400	Strong transcription	Fetal Brain Female	brain
45	chr12:50273200-50273600	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr12:50273200-50274600	ZNF genes & repeats	Fetal Kidney	kidney
47	chr12:50273200-50274600	Active TSS	Fetal Lung	lung
48	chr12:50273200-50275000	ZNF genes & repeats	Fetal Brain Male	brain
49	chr12:50273400-50273800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:50273600-50277800	Strong transcription	Brain Angular Gyrus	brain

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