Variant report

Variant	esv1815763
Chromosome Location	chr12:33271892-33306863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
2	chr12:33267275..33267984-chr12:33276076..33276722,2	MCF-7	breast:
3	chr12:33275813..33277341-chr12:33279661..33282309,2	K562	blood:
4	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
5	chr12:33275813..33277341-chr12:33279661..33282309,2	K562	blood:
6	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
7	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
8	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
9	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:

No data

Extended variants
information (count: 354 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555825949	chr12:33276830-33276831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574410083	chr12:33276845-33276846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140008842	chr12:33276878-33276879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371439279	chr12:33276927-33276928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143710669	chr12:33276937-33276938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58027725	chr12:33276939-33276940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559067511	chr12:33276947-33276948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75805678	chr12:33277047-33277048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186804828	chr12:33277058-33277059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146825829	chr12:33277083-33277084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191624012	chr12:33277084-33277085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74075509	chr12:33277130-33277131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574757679	chr12:33277136-33277137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578106594	chr12:33277147-33277148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139595236	chr12:33277249-33277250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563770480	chr12:33277289-33277290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532605228	chr12:33277325-33277326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184104216	chr12:33277388-33277389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75046383	chr12:33277421-33277422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565060472	chr12:33277434-33277435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527516397	chr12:33277464-33277465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545922638	chr12:33277507-33277508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368468385	chr12:33277537-33277538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187283780	chr12:33277548-33277549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567483575	chr12:33277561-33277562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138343020	chr12:33277585-33277586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192147096	chr12:33277605-33277606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149942471	chr12:33277664-33277665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144980971	chr12:33277783-33277784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537290536	chr12:33277790-33277791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569319662	chr12:33277792-33277793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185390673	chr12:33277806-33277807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369814725	chr12:33277862-33277863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558391417	chr12:33277950-33277951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373016549	chr12:33277963-33277964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150518959	chr12:33278011-33278012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372050830	chr12:33278015-33278016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528115543	chr12:33278100-33278101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17555138	chr12:33278145-33278146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532360858	chr12:33278221-33278222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149113097	chr12:33278238-33278239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529160016	chr12:33278271-33278272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575256210	chr12:33278354-33278355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537744415	chr12:33278368-33278369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113727905	chr12:33278414-33278415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143172384	chr12:33278415-33278416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147775866	chr12:33278460-33278461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182317813	chr12:33278471-33278472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550748212	chr12:33278564-33278565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1542156	chr12:33278620-33278621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33276800-33277200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:33277200-33278600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:33277800-33280000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:33278600-33279200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:33286600-33287000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:33292000-33293200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:33300600-33300800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:33300800-33304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:33304200-33304600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:33305000-33306200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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