Variant report

Variant	esv3368550
Chromosome Location	chr12:30996776-31003802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
2	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
3	chr12:30997433..30997938-chr6:16265491..16265991,2	MCF-7	breast:
4	chr12:30997537..30998070-chr6:16265472..16265991,2	K562	blood:
5	chr12:30999874..31000492-chr12:31398859..31399728,2	K562	blood:
6	chr12:29669971..29670947-chr12:30997067..30997929,2	MCF-7	breast:

Extended variants
information (count: 262 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113647560	chr12:30996787-30996788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534563195	chr12:30996798-30996799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561765876	chr12:30996827-30996828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33178	chr12:30996849-30996850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550695063	chr12:30996855-30996856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373521283	chr12:30996893-30996894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75155837	chr12:30996910-30996911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562989759	chr12:30996975-30996976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541490349	chr12:30997034-30997035	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556560789	chr12:30997040-30997041	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188097855	chr12:30997046-30997047	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112460406	chr12:30997101-30997102	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369053332	chr12:30997150-30997151	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545767425	chr12:30997175-30997176	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113158411	chr12:30997183-30997184	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553433115	chr12:30997186-30997187	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565479314	chr12:30997233-30997234	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1560017	chr12:30997235-30997236	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541644710	chr12:30997276-30997277	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559944307	chr12:30997277-30997278	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530230797	chr12:30997314-30997315	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548731117	chr12:30997358-30997359	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566911255	chr12:30997359-30997360	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563789928	chr12:30997385-30997386	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73300348	chr12:30997404-30997405	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145739434	chr12:30997407-30997408	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549670371	chr12:30997408-30997409	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115166264	chr12:30997458-30997459	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181924689	chr12:30997493-30997494	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185499129	chr12:30997546-30997547	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546406391	chr12:30997555-30997556	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561283076	chr12:30997654-30997655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567886498	chr12:30997684-30997685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535249187	chr12:30997686-30997687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs33179	chr12:30997689-30997690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575288190	chr12:30997705-30997706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368621780	chr12:30997709-30997710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148952614	chr12:30997754-30997755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557687095	chr12:30997756-30997757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111699941	chr12:30997771-30997772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577475245	chr12:30997785-30997786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377665519	chr12:30997789-30997790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541708890	chr12:30997793-30997794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560070077	chr12:30997822-30997823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36103315	chr12:30997834-30997835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575123203	chr12:30997847-30997848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs33180	chr12:30997893-30997894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563679989	chr12:30997907-30997908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12422606	chr12:30997925-30997926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552299864	chr12:30997926-30997927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30986400-31006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:30994400-30997000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:30996200-30997000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:30996200-30997400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:30996200-30997600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:30996400-30997000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr12:30996400-30997000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:30996400-30997200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:30996400-30997400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:30996400-30997400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:30996800-30997000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:30996800-30997400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:30997000-30997200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr12:30997000-30997400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:30997000-30997400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr12:30997000-30997400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:30997000-30997600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:30997000-30997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:30997200-30997400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:30997200-30997400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr12:30997200-30997400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr12:30997200-30997400	Enhancers	Stomach Mucosa	stomach
23	chr12:30997200-30997400	Enhancers	HepG2	liver
24	chr12:30997200-30997400	Bivalent Enhancer	HUVEC	blood vessel
25	chr12:30997200-30997400	Flanking Active TSS	K562	blood
26	chr12:30997200-30997600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:30997200-30997600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:30997200-30997600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:30997200-30997600	Enhancers	Fetal Kidney	kidney
30	chr12:30997200-30997600	Enhancers	Hela-S3	cervix
31	chr12:30997400-30997600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:30997400-30997600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:30997400-31000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:30997400-31003000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:30997400-31003800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:30997600-31000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:30997600-31000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:30997600-31000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:30997600-31000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:30997600-31003000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:31000400-31000600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr12:31000400-31000600	Enhancers	Stomach Mucosa	stomach
43	chr12:31000400-31000800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:31000400-31000800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:31000600-31000800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:31000600-31001000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:31000800-31001000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:31000800-31001200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr12:31000800-31004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:31000800-31004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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