Variant report

Variant	nsv668
Chromosome Location	chr12:33281675-33314883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
2	chr12:33276474..33280086-chr12:33280622..33283450,3	MCF-7	breast:
3	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
4	chr12:33287934..33289465-chr12:33290308..33292907,2	K562	blood:
5	chr12:33282689..33284420-chr12:33286427..33288390,2	MCF-7	breast:
6	chr12:33275813..33277341-chr12:33279661..33282309,2	K562	blood:

Extended variants
information (count: 264 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550209281	chr12:33286670-33286671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11449896	chr12:33286679-33286680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397761200	chr12:33286684-33286685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574349351	chr12:33286694-33286695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10844480	chr12:33286695-33286696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142040145	chr12:33286710-33286711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563108658	chr12:33286714-33286715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117672147	chr12:33286731-33286732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545565286	chr12:33286749-33286750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541795972	chr12:33286791-33286792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559438767	chr12:33286800-33286801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183249695	chr12:33286820-33286821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201684344	chr12:33286830-33286831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556490611	chr12:33286835-33286836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35135715	chr12:33286844-33286845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187908524	chr12:33286870-33286871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531197613	chr12:33286897-33286898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551280621	chr12:33286979-33286980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145867190	chr12:33292003-33292004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73098675	chr12:33292039-33292040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538938926	chr12:33292056-33292057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183509485	chr12:33292115-33292116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559324693	chr12:33292117-33292118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187764356	chr12:33292156-33292157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192393736	chr12:33292168-33292169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555003943	chr12:33292195-33292196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574944950	chr12:33292216-33292217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184729989	chr12:33292218-33292219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556057646	chr12:33292228-33292229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55801348	chr12:33292237-33292238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552761486	chr12:33292254-33292255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544960404	chr12:33292277-33292278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189571570	chr12:33292300-33292301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191860338	chr12:33292366-33292367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540579319	chr12:33292497-33292498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7977532	chr12:33292503-33292504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529722926	chr12:33292507-33292508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184294197	chr12:33292533-33292534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532256334	chr12:33292538-33292539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570131550	chr12:33292541-33292542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532701248	chr12:33292566-33292567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528035015	chr12:33292571-33292572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551374347	chr12:33292572-33292573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570982292	chr12:33292579-33292580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552909562	chr12:33292581-33292582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566424067	chr12:33292604-33292605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148163412	chr12:33292623-33292624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141854883	chr12:33292658-33292659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150192371	chr12:33292662-33292663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189064449	chr12:33292671-33292672	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
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	17899364	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33286600-33287000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:33292000-33293200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:33300600-33300800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:33300800-33304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:33304200-33304600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33305000-33306200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links