Variant report

Variant	esv3343263
Chromosome Location	chr12:123474249-123476747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123472287..123474627-chr12:123497209..123499619,2	K562	blood:
2	chr12:123473528..123475849-chr12:123479153..123481773,2	K562	blood:
3	chr12:123476420..123479268-chr12:123480429..123483932,4	K562	blood:
4	chr12:123474530..123476275-chr12:123483617..123485746,2	K562	blood:
5	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555008719	chr12:123474272-123474273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368582930	chr12:123474307-123474308	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372282591	chr12:123474329-123474330	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201544850	chr12:123474350-123474351	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367854934	chr12:123474359-123474360	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148481510	chr12:123474364-123474365	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199659132	chr12:123474384-123474385	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141762983	chr12:123474397-123474398	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559150099	chr12:123474433-123474434	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533042708	chr12:123474434-123474435	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544874376	chr12:123474456-123474457	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372919659	chr12:123474482-123474483	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563437854	chr12:123474487-123474488	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371684981	chr12:123474497-123474498	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11612594	chr12:123474529-123474530	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536845723	chr12:123474582-123474583	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548742879	chr12:123474607-123474608	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539860087	chr12:123474613-123474614	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528220366	chr12:123474629-123474630	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559790770	chr12:123474671-123474672	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571832832	chr12:123474699-123474700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369020129	chr12:123474714-123474715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368291752	chr12:123474719-123474720	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557588627	chr12:123474737-123474738	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569462201	chr12:123474749-123474750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536642000	chr12:123474757-123474758	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73411011	chr12:123474762-123474763	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572980955	chr12:123474811-123474812	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534062224	chr12:123474852-123474853	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558647376	chr12:123474854-123474855	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376448245	chr12:123475032-123475033	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73411014	chr12:123475034-123475035	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567563310	chr12:123475053-123475054	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369071498	chr12:123475070-123475071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367924371	chr12:123475082-123475083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371788853	chr12:123475088-123475089	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376540906	chr12:123475099-123475100	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147222131	chr12:123475167-123475168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563588098	chr12:123475170-123475171	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200387641	chr12:123475178-123475179	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376647561	chr12:123475179-123475180	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140681040	chr12:123475198-123475199	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368968116	chr12:123475202-123475203	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560753567	chr12:123475236-123475237	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528105755	chr12:123475255-123475256	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536112436	chr12:123475269-123475270	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372983630	chr12:123475279-123475280	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546693255	chr12:123475309-123475310	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564978002	chr12:123475347-123475348	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532714866	chr12:123475424-123475425	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
3	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
4	chr12:123468000-123486200	Strong transcription	Fetal Brain Female	brain
5	chr12:123468200-123476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123468200-123477800	Strong transcription	Brain Germinal Matrix	brain
7	chr12:123468800-123477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
9	chr12:123469000-123476600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:123469200-123477400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
12	chr12:123469400-123479400	Weak transcription	Psoas Muscle	Psoas
13	chr12:123469400-123491600	Weak transcription	HMEC	breast
14	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
15	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:123469600-123474800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:123469600-123475200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123469600-123475200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:123469600-123475600	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr12:123469600-123477000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:123469600-123477000	Strong transcription	Colonic Mucosa	Colon
22	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
25	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
27	chr12:123469800-123491600	Weak transcription	Osteobl	bone
28	chr12:123470000-123475200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123470000-123477000	Strong transcription	Fetal Intestine Small	intestine
30	chr12:123470000-123477200	Strong transcription	Lung	lung
31	chr12:123470000-123480000	Weak transcription	Right Atrium	heart
32	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:123470000-123486200	Weak transcription	HSMM	muscle
34	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:123470200-123475400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:123470200-123476200	Strong transcription	NHLF	lung
37	chr12:123470200-123477200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:123470200-123479200	Strong transcription	Fetal Thymus	thymus
39	chr12:123470200-123479800	Strong transcription	Right Ventricle	heart
40	chr12:123470200-123480400	Weak transcription	HepG2	liver
41	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:123470400-123475400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:123470400-123476200	Strong transcription	Adipose Nuclei	Adipose
44	chr12:123470400-123477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:123470400-123477200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:123470400-123477200	Strong transcription	Fetal Stomach	stomach
47	chr12:123470400-123480000	Strong transcription	Left Ventricle	heart
48	chr12:123470400-123482800	Strong transcription	Gastric	stomach
49	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
50	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung

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