Variant report

Variant	nsv976655
Chromosome Location	chr12:124032880-124035284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124024608..124026417-chr12:124031309..124033048,2	K562	blood:
2	chr12:123873330..123875210-chr12:124033719..124035422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183955	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554304889	chr12:124032883-124032884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116519775	chr12:124032932-124032933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540493638	chr12:124032964-124032965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576758516	chr12:124033027-124033028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367653558	chr12:124033053-124033054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148907879	chr12:124033062-124033063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191202521	chr12:124033076-124033077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562572993	chr12:124033086-124033087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142716557	chr12:124033108-124033109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548815572	chr12:124033153-124033154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373637970	chr12:124033173-124033174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182243280	chr12:124033237-124033238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151031733	chr12:124033302-124033303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186912242	chr12:124033364-124033365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28498381	chr12:124033365-124033366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549720281	chr12:124033367-124033368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568227298	chr12:124033397-124033398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535856334	chr12:124033409-124033410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112978027	chr12:124033422-124033423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376572979	chr12:124033430-124033431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554365742	chr12:124033442-124033443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145052419	chr12:124033450-124033451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552411073	chr12:124033472-124033473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533877073	chr12:124033478-124033479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368739182	chr12:124033496-124033497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372334474	chr12:124033500-124033501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577016012	chr12:124033514-124033515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537249452	chr12:124033530-124033531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146816492	chr12:124033534-124033535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376317536	chr12:124033542-124033543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191522161	chr12:124033543-124033544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61100007	chr12:124033603-124033604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140642492	chr12:124033630-124033631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542372764	chr12:124033640-124033641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527875264	chr12:124033677-124033678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369557883	chr12:124033684-124033685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562037604	chr12:124033686-124033687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145812655	chr12:124033697-124033698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111554166	chr12:124033716-124033717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138312604	chr12:124033731-124033732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535581776	chr12:124033798-124033799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547855609	chr12:124033799-124033800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566592039	chr12:124033814-124033815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533992633	chr12:124033836-124033837	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78406245	chr12:124033837-124033838	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149634936	chr12:124033838-124033839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143412133	chr12:124033858-124033859	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184709793	chr12:124033867-124033868	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556220699	chr12:124033868-124033869	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7315326	chr12:124033885-124033886	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124031400-124033800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:124031600-124033800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:124032600-124034400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:124033600-124034400	Enhancers	Primary B cells from cord blood	blood
5	chr12:124034400-124034800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:124034400-124039000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:124034600-124034800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:124034600-124035600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:124034600-124036000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:124034800-124035200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:124035200-124036000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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