Variant report

Variant	nsv976741
Chromosome Location	chr12:33664640-33670663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33663952..33667378-chr12:33671771..33674594,3	MCF-7	breast:
2	chr12:33667255..33668975-chr12:33733951..33735986,2	MCF-7	breast:
3	chr12:33590785..33592619-chr12:33667736..33669567,2	MCF-7	breast:
4	chr1:231069219..231069907-chr12:33670109..33670973,2	MCF-7	breast:
5	chr12:33669502..33671895-chr12:33672073..33673805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110975	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537366348	chr12:33667780-33667781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150678452	chr12:33667851-33667852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138858367	chr12:33667852-33667853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113460182	chr12:33667882-33667883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553229779	chr12:33667889-33667890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149432865	chr12:33667908-33667909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144820348	chr12:33667927-33667928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554811227	chr12:33668006-33668007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574650390	chr12:33668073-33668074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78601210	chr12:33668089-33668090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563575885	chr12:33668120-33668121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532044675	chr12:33668142-33668143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569772726	chr12:33668171-33668172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192490112	chr12:33668174-33668175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76838273	chr12:33668200-33668201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559040972	chr12:33668212-33668213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528183783	chr12:33668223-33668224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547848496	chr12:33668247-33668248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34990069	chr12:33668274-33668275	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530988920	chr12:33668277-33668278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551026836	chr12:33668298-33668299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148100653	chr12:33668302-33668303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571117677	chr12:33668303-33668304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200610168	chr12:33668304-33668305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138975126	chr12:33668318-33668319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539492860	chr12:33668333-33668334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201873440	chr12:33668357-33668358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553333126	chr12:33668361-33668362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115547788	chr12:33668375-33668376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527813371	chr12:33668384-33668385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552124749	chr12:33668416-33668417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139537756	chr12:33668502-33668503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555869079	chr12:33668506-33668507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574712358	chr12:33668510-33668511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185869668	chr12:33668511-33668512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374858287	chr12:33668525-33668526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117440844	chr12:33668547-33668548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189081908	chr12:33668551-33668552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545739439	chr12:33668556-33668557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558940545	chr12:33668557-33668558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528051824	chr12:33668563-33668564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs117846227	chr12:33668580-33668581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561433291	chr12:33668586-33668587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536010211	chr12:33668594-33668595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531053601	chr12:33668617-33668618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370840073	chr12:33668655-33668656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116271817	chr12:33668783-33668784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192779772	chr12:33668786-33668787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533684897	chr12:33668788-33668789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564566756	chr12:33668796-33668797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33668400-33669400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:33669400-33669600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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