Variant report

Variant	esv3424653
Chromosome Location	chr12:33369734-33401031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33352581..33354830-chr12:33377901..33380078,2	MCF-7	breast:
2	chr12:33389850..33391877-chr17:56707852..56709552,2	MCF-7	breast:
3	chr12:33362959..33364944-chr12:33375328..33377140,2	MCF-7	breast:
4	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:
5	chr11:63252529..63253373-chr12:33376482..33377209,2	MCF-7	breast:
6	chr12:33388213..33390806-chr12:33400854..33403757,2	K562	blood:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 418 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11052538	chr12:33375456-33375457	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181062880	chr12:33375565-33375566	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542888637	chr12:33375592-33375593	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556061972	chr12:33375616-33375617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576320822	chr12:33375651-33375652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544942014	chr12:33375661-33375662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564917206	chr12:33375693-33375694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71447643	chr12:33375711-33375712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398076561	chr12:33375716-33375717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398044317	chr12:33375717-33375718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11052539	chr12:33375805-33375806	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540738358	chr12:33375806-33375807	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560691828	chr12:33375810-33375811	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529738023	chr12:33375811-33375812	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549994833	chr12:33375813-33375814	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570114745	chr12:33375814-33375815	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532859532	chr12:33375816-33375817	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185493027	chr12:33375829-33375830	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566074480	chr12:33375842-33375843	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537181247	chr12:33375855-33375856	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113563650	chr12:33375894-33375895	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11052540	chr12:33375898-33375899	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373853009	chr12:33375905-33375906	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568596091	chr12:33375926-33375927	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76591517	chr12:33375930-33375931	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556339644	chr12:33375943-33375944	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11052541	chr12:33375963-33375964	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116784812	chr12:33376023-33376024	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79095094	chr12:33376024-33376025	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10772054	chr12:33376030-33376031	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191371587	chr12:33376039-33376040	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534323323	chr12:33376046-33376047	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572002592	chr12:33376060-33376061	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76851203	chr12:33376084-33376085	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560527644	chr12:33376118-33376119	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574208874	chr12:33376126-33376127	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116087453	chr12:33376181-33376182	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183630885	chr12:33376197-33376198	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188516417	chr12:33376233-33376234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532554357	chr12:33376269-33376270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552756115	chr12:33376300-33376301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552728290	chr12:33376308-33376309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574717312	chr12:33376311-33376312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74657955	chr12:33376335-33376336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573387289	chr12:33376354-33376355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528773352	chr12:33376355-33376356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138951248	chr12:33376356-33376357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548636003	chr12:33376373-33376374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557147980	chr12:33376397-33376398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537566161	chr12:33376444-33376445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33375400-33375600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:33375400-33376200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:33375600-33376200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:33375600-33380600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:33375800-33376400	Enhancers	Esophagus	oesophagus
6	chr12:33376400-33376800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:33376400-33379200	Weak transcription	Esophagus	oesophagus
8	chr12:33376800-33377400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:33380600-33380800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:33398400-33398800	Enhancers	Colon Smooth Muscle	Colon
11	chr12:33399200-33400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:33400000-33402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:33400400-33400800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links