Variant report

Variant	esv275551
Chromosome Location	chr12:119441638-119443713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10851061	chr12:119441638-119441639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551304468	chr12:119441682-119441683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149252019	chr12:119441685-119441686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533470748	chr12:119441738-119441739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547154502	chr12:119441761-119441762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144381485	chr12:119441846-119441847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148787545	chr12:119441851-119441852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142467729	chr12:119441868-119441869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151287515	chr12:119441892-119441893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369443063	chr12:119441924-119441925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538490030	chr12:119441946-119441947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187220579	chr12:119442009-119442010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577862812	chr12:119442012-119442013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534117271	chr12:119442033-119442034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553485126	chr12:119442107-119442108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372957972	chr12:119442116-119442117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542280513	chr12:119442124-119442125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562472839	chr12:119442142-119442143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576269129	chr12:119442257-119442258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545244270	chr12:119442262-119442263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141265926	chr12:119442348-119442349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537346235	chr12:119442352-119442353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190547214	chr12:119442385-119442386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114816415	chr12:119442407-119442408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547589779	chr12:119442450-119442451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183146302	chr12:119442459-119442460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529370779	chr12:119442491-119442492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11069228	chr12:119442492-119442493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569185754	chr12:119442509-119442510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537847105	chr12:119442537-119442538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552092575	chr12:119442581-119442582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571592856	chr12:119442609-119442610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201268735	chr12:119442653-119442654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370604479	chr12:119442675-119442676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374344092	chr12:119442703-119442704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542729245	chr12:119442720-119442721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543651494	chr12:119442744-119442745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140094909	chr12:119442784-119442785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116149552	chr12:119442796-119442797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553024983	chr12:119442846-119442847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555892330	chr12:119442870-119442871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145442041	chr12:119442891-119442892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147706212	chr12:119442921-119442922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573237695	chr12:119442924-119442925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371194199	chr12:119442934-119442935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142331994	chr12:119442936-119442937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577033900	chr12:119442972-119442973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35190639	chr12:119442991-119442992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572340387	chr12:119442995-119442996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541241514	chr12:119443017-119443018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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	16397240	CNVD
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119428000-119443000	Weak transcription	Fetal Brain Male	brain
2	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:119440600-119443800	Enhancers	Brain Germinal Matrix	brain
4	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119441000-119442000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:119441000-119442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:119441000-119442800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:119441000-119443200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:119441000-119445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:119441000-119446800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:119441200-119443000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:119441200-119443000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:119441400-119441800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:119441400-119442800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:119441400-119443000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:119441600-119442400	Weak transcription	Fetal Brain Female	brain
19	chr12:119441600-119442400	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:119441800-119442000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:119442000-119442400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:119442000-119442600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:119442000-119442800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:119442000-119444200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:119442200-119443000	Enhancers	Fetal Lung	lung
26	chr12:119442200-119443200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:119442400-119444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:119442400-119444800	Enhancers	Fetal Brain Female	brain
29	chr12:119442400-119446400	Enhancers	Fetal Muscle Leg	muscle
30	chr12:119442600-119444200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:119442600-119444600	Enhancers	Fetal Stomach	stomach
32	chr12:119442800-119444000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:119442800-119444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:119442800-119444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:119443000-119443400	Weak transcription	Fetal Lung	lung
36	chr12:119443000-119444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:119443000-119444400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:119443000-119445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:119443000-119447600	Enhancers	Fetal Brain Male	brain
40	chr12:119443200-119443600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:119443200-119446800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:119443400-119445000	Enhancers	Fetal Lung	lung
43	chr12:119443600-119444600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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