Variant report

Variant	esv2763005
Chromosome Location	chr12:119047482-119049604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2049128	chr12:119047482-119047483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573940809	chr12:119047516-119047517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542554903	chr12:119047557-119047558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376354546	chr12:119047589-119047590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74976864	chr12:119047612-119047613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531389510	chr12:119047664-119047665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184297517	chr12:119047756-119047757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61131582	chr12:119047777-119047778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141634344	chr12:119047871-119047872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373320955	chr12:119047882-119047883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532136364	chr12:119047928-119047929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2730564	chr12:119047947-119047948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546551549	chr12:119047962-119047963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566521529	chr12:119047964-119047965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71452658	chr12:119047973-119047974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145390646	chr12:119047979-119047980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549388266	chr12:119047987-119047988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569566002	chr12:119048015-119048016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538018078	chr12:119048017-119048018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2682760	chr12:119048039-119048040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs79949518	chr12:119048047-119048048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73413408	chr12:119048056-119048057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115054395	chr12:119048058-119048059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137875179	chr12:119048080-119048081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189087806	chr12:119048086-119048087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181076370	chr12:119048087-119048088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116696777	chr12:119048105-119048106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78241383	chr12:119048112-119048113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149465842	chr12:119048158-119048159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76352412	chr12:119048167-119048168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79765652	chr12:119048219-119048220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143885759	chr12:119048230-119048231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377614315	chr12:119048271-119048272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7960860	chr12:119048290-119048291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs148577501	chr12:119048340-119048341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549372378	chr12:119048361-119048362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117182014	chr12:119048426-119048427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115361410	chr12:119048507-119048508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551641980	chr12:119048547-119048548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571859621	chr12:119048553-119048554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2730562	chr12:119048584-119048585	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567408814	chr12:119048605-119048606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553888894	chr12:119048622-119048623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1589361	chr12:119048686-119048687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142014377	chr12:119048689-119048690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187161360	chr12:119048708-119048709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576218511	chr12:119048723-119048724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545281119	chr12:119048789-119048790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558472338	chr12:119048790-119048791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78746546	chr12:119048810-119048811	Enhancers Weak transcription	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
Autism	22495311	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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119042200-119047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:119042800-119048600	Weak transcription	Pancreas	Pancrea
3	chr12:119044800-119049200	Weak transcription	Fetal Brain Male	brain
4	chr12:119045600-119048000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:119046800-119048000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:119047200-119049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119047400-119047800	Enhancers	Fetal Brain Female	brain
8	chr12:119047400-119048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:119047400-119050200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:119047600-119050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:119047600-119050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:119048000-119049000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:119048000-119049200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:119048000-119049400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:119048000-119049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:119048000-119049800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:119048000-119049800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:119048000-119050000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:119048200-119048400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:119048200-119048400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:119048200-119049400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:119048200-119050200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:119048400-119049200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:119048400-119050000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:119048400-119050200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:119048600-119050000	Enhancers	Aorta	Aorta
27	chr12:119048600-119050000	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:119048600-119050200	Enhancers	Pancreas	Pancrea
29	chr12:119048800-119049200	Enhancers	Brain Germinal Matrix	brain
30	chr12:119048800-119049400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr12:119048800-119049800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:119049000-119049200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:119049000-119050200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:119049000-119056400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:119049200-119049400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:119049200-119049400	Enhancers	Fetal Brain Male	brain
37	chr12:119049200-119050000	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:119049400-119059800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:119049600-119050600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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