Variant report

Variant	esv3342304
Chromosome Location	chr12:118916281-118944811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 950 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556098938	chr12:118916300-118916301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61944720	chr12:118916303-118916304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531547445	chr12:118916353-118916354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148136482	chr12:118916362-118916363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113377680	chr12:118916377-118916378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56275031	chr12:118917430-118917431	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147462982	chr12:118917463-118917464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs61944723	chr12:118917529-118917530	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549331403	chr12:118917570-118917571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376333055	chr12:118917602-118917603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188664912	chr12:118917629-118917630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75600004	chr12:118917640-118917641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375667231	chr12:118917691-118917692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551584811	chr12:118917787-118917788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571502055	chr12:118917788-118917789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149532189	chr12:118917791-118917792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7138023	chr12:118917794-118917795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567904069	chr12:118917798-118917799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180831541	chr12:118917849-118917850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7139070	chr12:118917859-118917860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576239475	chr12:118917895-118917896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545104109	chr12:118917914-118917915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558838567	chr12:118917945-118917946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115943166	chr12:118917988-118917989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185244113	chr12:118917989-118917990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7977530	chr12:118918004-118918005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113767235	chr12:118918026-118918027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370820186	chr12:118918029-118918030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59930917	chr12:118918039-118918040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs61068630	chr12:118918098-118918099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531736603	chr12:118918149-118918150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370787931	chr12:118918175-118918176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73396774	chr12:118918176-118918177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs58020025	chr12:118918203-118918204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534678310	chr12:118918209-118918210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527885140	chr12:118918222-118918223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374294046	chr12:118918251-118918252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115579358	chr12:118918289-118918290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567882985	chr12:118918296-118918297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536935881	chr12:118918298-118918299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556223162	chr12:118918309-118918310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569666469	chr12:118918310-118918311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571212189	chr12:118918394-118918395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538780164	chr12:118918403-118918404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146201116	chr12:118918420-118918421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55775742	chr12:118918436-118918437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572079143	chr12:118918460-118918461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12427407	chr12:118918481-118918482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371235840	chr12:118918507-118918508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139215161	chr12:118918530-118918531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neuroblastoma	20406844	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118916000-118916400	Enhancers	Right Atrium	heart
2	chr12:118917400-118917600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118917600-118917800	Enhancers	Aorta	Aorta
4	chr12:118917600-118924200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:118925400-118926800	Enhancers	Colon Smooth Muscle	Colon
6	chr12:118926200-118927000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:118926800-118931000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:118927000-118930000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:118929000-118929400	Enhancers	Psoas Muscle	Psoas
10	chr12:118930000-118930200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:118930800-118931000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:118930800-118931000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:118930800-118931200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:118931000-118931400	Enhancers	Colon Smooth Muscle	Colon
15	chr12:118931400-118931600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:118931600-118932200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:118931600-118932600	Enhancers	Colon Smooth Muscle	Colon
18	chr12:118931800-118932200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:118932600-118935800	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:118933000-118934000	Enhancers	Placenta	Placenta
21	chr12:118934000-118935000	Weak transcription	Placenta	Placenta
22	chr12:118935000-118936600	Enhancers	Placenta	Placenta
23	chr12:118935000-118936600	Enhancers	Stomach Mucosa	stomach
24	chr12:118935200-118936400	Enhancers	Right Ventricle	heart
25	chr12:118935600-118936400	Enhancers	Left Ventricle	heart
26	chr12:118935600-118936600	Enhancers	Right Atrium	heart
27	chr12:118935600-118936800	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:118935800-118936200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:118935800-118936200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:118935800-118936400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:118935800-118936400	Enhancers	Pancreas	Pancrea
32	chr12:118935800-118936600	Enhancers	Colon Smooth Muscle	Colon
33	chr12:118935800-118936600	Enhancers	Fetal Heart	heart
34	chr12:118935800-118936600	Enhancers	Gastric	stomach
35	chr12:118936400-118937600	Weak transcription	Right Ventricle	heart
36	chr12:118936400-118938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:118936600-118937800	Weak transcription	Fetal Heart	heart
38	chr12:118936600-118937800	Weak transcription	Gastric	stomach
39	chr12:118936800-118937600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:118937600-118938200	Enhancers	Right Ventricle	heart
41	chr12:118937600-118938400	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:118937800-118938200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:118937800-118938200	Enhancers	Fetal Heart	heart
44	chr12:118937800-118938400	Enhancers	Gastric	stomach
45	chr12:118937800-118938600	Enhancers	Fetal Brain Male	brain
46	chr12:118938000-118938400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:118938200-118941000	Weak transcription	Fetal Heart	heart

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