Variant report

Variant	esv3362333
Chromosome Location	chr12:119916369-119920867
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:119608735..119609683-chr12:119917365..119918631,5	MCF-7	breast:
2	chr12:119883274..119886371-chr12:119915842..119918823,3	MCF-7	breast:
3	chr12:119881941..119882941-chr12:119916276..119917584,7	MCF-7	breast:
4	chr12:119608735..119609705-chr12:119917084..119918539,5	MCF-7	breast:
5	chr12:119608797..119609566-chr12:119917639..119918162,2	MCF-7	breast:
6	chr12:119882836..119888025-chr12:119914651..119920477,9	MCF-7	breast:
7	chr12:119882040..119882723-chr12:119918595..119919451,2	MCF-7	breast:
8	chr12:119917727..119918526-chr12:119981821..119982376,2	MCF-7	breast:
9	chr12:119614742..119619324-chr12:119914452..119918204,4	MCF-7	breast:
10	chr12:119894815..119897126-chr12:119915080..119916947,2	MCF-7	breast:
11	chr12:119913085..119915232-chr12:119915354..119917050,2	MCF-7	breast:
12	chr12:119915459..119919519-chr12:119922678..119926603,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152137	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs373255961	chr12:119916408-119916409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35215523	chr12:119916409-119916410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573032733	chr12:119916416-119916417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544841327	chr12:119916453-119916454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146228875	chr12:119916516-119916517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561589879	chr12:119916530-119916531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188020271	chr12:119916566-119916567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145926974	chr12:119916611-119916612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369049108	chr12:119916641-119916642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564755714	chr12:119916642-119916643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114200442	chr12:119916699-119916700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111911484	chr12:119916705-119916706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565692493	chr12:119916727-119916728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534842720	chr12:119916739-119916740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs16949241	chr12:119916818-119916819	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116281503	chr12:119916827-119916828	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139820557	chr12:119916862-119916863	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377100588	chr12:119916883-119916884	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2519540	chr12:119916900-119916901	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs201658562	chr12:119916912-119916913	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576813844	chr12:119916925-119916926	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373048937	chr12:119916934-119916935	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560809600	chr12:119916946-119916947	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149574114	chr12:119916948-119916949	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144234053	chr12:119916949-119916950	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377075044	chr12:119916954-119916955	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139622845	chr12:119916980-119916981	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541627992	chr12:119917021-119917022	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75300727	chr12:119917028-119917029	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530393879	chr12:119917030-119917031	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367752383	chr12:119917052-119917053	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191404265	chr12:119917077-119917078	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79366051	chr12:119917078-119917079	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149632565	chr12:119917097-119917098	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566182847	chr12:119917284-119917285	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553223240	chr12:119917300-119917301	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185013699	chr12:119917322-119917323	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12814950	chr12:119917391-119917392	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567961988	chr12:119917397-119917398	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12814831	chr12:119917441-119917442	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556847909	chr12:119917484-119917485	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570304675	chr12:119917495-119917496	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373861145	chr12:119917572-119917573	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539440476	chr12:119917649-119917650	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552757952	chr12:119917684-119917685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552280823	chr12:119917710-119917711	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546254306	chr12:119917777-119917778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189402304	chr12:119917781-119917782	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555195793	chr12:119917791-119917792	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569350079	chr12:119917834-119917835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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	16397240	CNVD
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119916800-119917000	Enhancers	HSMMtube	muscle
2	chr12:119916800-119917800	Enhancers	Placenta	Placenta
3	chr12:119916800-119918800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:119917000-119917200	Flanking Active TSS	HSMMtube	muscle
5	chr12:119917200-119917400	Enhancers	HSMMtube	muscle
6	chr12:119917400-119917600	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:119917400-119917600	Flanking Active TSS	HSMMtube	muscle
8	chr12:119917400-119924600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:119917600-119918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119917600-119918200	Enhancers	HSMMtube	muscle
11	chr12:119918000-119919000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119918400-119918600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:119918400-119918800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:119918400-119918800	ZNF genes & repeats	Fetal Kidney	kidney
15	chr12:119918600-119918800	Enhancers	Pancreas	Pancrea
16	chr12:119918600-119918800	ZNF genes & repeats	Spleen	Spleen
17	chr12:119918800-119920400	Weak transcription	Spleen	Spleen
18	chr12:119918800-119921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:119920400-119921000	ZNF genes & repeats	Spleen	Spleen
20	chr12:119920600-119921000	ZNF genes & repeats	Gastric	stomach

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