Variant report

Variant	esv3356637
Chromosome Location	chr12:119918358-119918954
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:119915459..119919519-chr12:119922678..119926603,4	MCF-7	breast:
2	chr12:119608735..119609683-chr12:119917365..119918631,5	MCF-7	breast:
3	chr12:119882836..119888025-chr12:119914651..119920477,9	MCF-7	breast:
4	chr12:119882040..119882723-chr12:119918595..119919451,2	MCF-7	breast:
5	chr12:119917727..119918526-chr12:119981821..119982376,2	MCF-7	breast:
6	chr12:119608735..119609705-chr12:119917084..119918539,5	MCF-7	breast:
7	chr12:119883274..119886371-chr12:119915842..119918823,3	MCF-7	breast:

No data

Extended variants
information (count: 40 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539384713	chr12:119918369-119918370	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201996927	chr12:119918373-119918374	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529268272	chr12:119918389-119918390	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546551133	chr12:119918398-119918399	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566388878	chr12:119918402-119918403	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535532449	chr12:119918412-119918413	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538402013	chr12:119918414-119918415	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111841527	chr12:119918450-119918451	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376016755	chr12:119918458-119918459	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555508817	chr12:119918491-119918492	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575060376	chr12:119918497-119918498	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537659820	chr12:119918516-119918517	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113287470	chr12:119918537-119918538	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557309326	chr12:119918543-119918544	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577447766	chr12:119918561-119918562	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546225874	chr12:119918565-119918566	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559689789	chr12:119918568-119918569	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs111205115	chr12:119918572-119918573	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572912244	chr12:119918587-119918588	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541875640	chr12:119918595-119918596	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs199577366	chr12:119918599-119918600	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs199825802	chr12:119918627-119918628	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371484432	chr12:119918632-119918633	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549081974	chr12:119918696-119918697	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs201125782	chr12:119918723-119918724	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558675895	chr12:119918735-119918736	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112221741	chr12:119918750-119918751	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs561867044	chr12:119918758-119918759	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530584386	chr12:119918759-119918760	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550344128	chr12:119918772-119918773	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs61938116	chr12:119918780-119918781	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564153398	chr12:119918783-119918784	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2519541	chr12:119918820-119918821	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555043577	chr12:119918825-119918826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546616174	chr12:119918835-119918836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566420533	chr12:119918842-119918843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369306804	chr12:119918846-119918847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535466663	chr12:119918857-119918858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549066608	chr12:119918868-119918869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs568960948	chr12:119918872-119918873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119916800-119918800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:119917400-119924600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:119918000-119919000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119918400-119918600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:119918400-119918800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:119918400-119918800	ZNF genes & repeats	Fetal Kidney	kidney
7	chr12:119918600-119918800	Enhancers	Pancreas	Pancrea
8	chr12:119918600-119918800	ZNF genes & repeats	Spleen	Spleen
9	chr12:119918800-119920400	Weak transcription	Spleen	Spleen
10	chr12:119918800-119921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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