Variant report

Variant	esv3374700
Chromosome Location	chr12:123936424-123938972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:123938663-123938859	HepG2	liver:	n/a	chr12:123938775-123938786
2	GATA1	chr12:123936804-123937042	PBDE	blood:	n/a	n/a
3	ZNF384	chr12:123936570-123936938	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123848128..123849893-chr12:123937989..123939735,2	MCF-7	breast:
2	chr12:123936540..123939308-chr12:123941590..123944432,3	MCF-7	breast:

Variant related genes	Relation type
SNRNP35	TF binding region
ENSG00000139697	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000256092	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551164222	chr12:123936437-123936438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571399839	chr12:123936451-123936452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540111077	chr12:123936461-123936462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564909267	chr12:123936503-123936504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532137072	chr12:123936517-123936518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143428421	chr12:123936535-123936536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11507739	chr12:123936554-123936555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117375411	chr12:123936567-123936568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79030513	chr12:123936601-123936602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529776879	chr12:123936623-123936624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58447442	chr12:123936632-123936633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566903219	chr12:123936657-123936658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148883818	chr12:123936660-123936661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535506083	chr12:123936669-123936670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556063714	chr12:123936671-123936672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534516571	chr12:123936692-123936693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147974993	chr12:123936707-123936708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371381873	chr12:123936714-123936715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143069061	chr12:123936721-123936722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397850575	chr12:123936740-123936741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs36053190	chr12:123936741-123936742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141646973	chr12:123936769-123936770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143202403	chr12:123936850-123936851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537826085	chr12:123936871-123936872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556274828	chr12:123936872-123936873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28883905	chr12:123936889-123936890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112323763	chr12:123936890-123936891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143694667	chr12:123936899-123936900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28829651	chr12:123936900-123936901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182800433	chr12:123936908-123936909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138625669	chr12:123936918-123936919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141693188	chr12:123936935-123936936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532175749	chr12:123936948-123936949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544238694	chr12:123936954-123936955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs80060036	chr12:123937007-123937008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562437101	chr12:123937025-123937026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529798376	chr12:123937079-123937080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146245167	chr12:123937098-123937099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187708927	chr12:123937099-123937100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139373624	chr12:123937102-123937103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192868009	chr12:123937141-123937142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35322317	chr12:123937147-123937148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542230337	chr12:123937188-123937189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538115549	chr12:123937217-123937218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149541699	chr12:123937224-123937225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542029110	chr12:123937236-123937237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371424386	chr12:123937237-123937238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535957028	chr12:123937255-123937256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375418958	chr12:123937266-123937267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553966575	chr12:123937287-123937288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123933400-123942200	Weak transcription	Thymus	Thymus
2	chr12:123934200-123942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123934800-123936600	Weak transcription	HepG2	liver
4	chr12:123934800-123939400	Weak transcription	K562	blood
5	chr12:123936000-123937200	Enhancers	Placenta	Placenta
6	chr12:123936600-123937200	Enhancers	HepG2	liver
7	chr12:123937200-123937600	Weak transcription	HepG2	liver
8	chr12:123937200-123942200	Weak transcription	Placenta	Placenta
9	chr12:123937600-123938200	Enhancers	HepG2	liver
10	chr12:123938200-123942400	Weak transcription	HepG2	liver

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