Variant report

Variant	nsv526125
Chromosome Location	chr12:117136787-117138832
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	chr12:117133986..117137596-chr12:117137852..117142272,5	MCF-7	breast:
2	chr12:116714346..116716168-chr12:117136403..117139329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257654	chromatin interactions
ENSG00000123066	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11068147	chr12:117136787-117136788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs556645814	chr12:117136828-117136829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576480688	chr12:117136838-117136839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557345354	chr12:117136840-117136841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545480924	chr12:117136845-117136846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79925214	chr12:117136858-117136859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150516671	chr12:117136874-117136875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577863825	chr12:117136962-117136963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540578433	chr12:117137002-117137003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11068148	chr12:117137018-117137019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374872174	chr12:117137046-117137047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536717942	chr12:117137061-117137062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116753441	chr12:117137062-117137063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11068149	chr12:117137071-117137072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562470974	chr12:117137077-117137078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372453975	chr12:117137112-117137113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531316058	chr12:117137140-117137141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551016817	chr12:117137151-117137152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188167113	chr12:117137187-117137188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs60967118	chr12:117137192-117137193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56139481	chr12:117137200-117137201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56058130	chr12:117137206-117137207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs60937599	chr12:117137229-117137230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527869883	chr12:117137246-117137247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112554075	chr12:117137247-117137248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371131863	chr12:117137275-117137276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149657783	chr12:117137278-117137279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549919929	chr12:117137293-117137294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147384397	chr12:117137301-117137302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111440707	chr12:117137305-117137306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559089045	chr12:117137358-117137359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577949015	chr12:117137373-117137374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144835812	chr12:117137374-117137375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192330837	chr12:117137400-117137401	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561511648	chr12:117137412-117137413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147928284	chr12:117137428-117137429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149019718	chr12:117137440-117137441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530406415	chr12:117137446-117137447	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371030559	chr12:117137459-117137460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575629946	chr12:117137496-117137497	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544745905	chr12:117137518-117137519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564620893	chr12:117137548-117137549	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112886725	chr12:117137556-117137557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564035320	chr12:117137598-117137599	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142964716	chr12:117137610-117137611	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs151106820	chr12:117137628-117137629	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543021542	chr12:117137656-117137657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561497207	chr12:117137662-117137663	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530334630	chr12:117137672-117137673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550665392	chr12:117137676-117137677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117132000-117141200	Weak transcription	Lung	lung
2	chr12:117132200-117147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:117132400-117147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:117134200-117146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:117135000-117137800	Enhancers	Pancreas	Pancrea
6	chr12:117135200-117137000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:117135200-117137000	Enhancers	Fetal Heart	heart
8	chr12:117135200-117137600	Enhancers	Fetal Lung	lung
9	chr12:117135400-117137000	Enhancers	Liver	Liver
10	chr12:117135400-117137000	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:117135400-117137000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:117135400-117137000	Enhancers	Stomach Mucosa	stomach
13	chr12:117135400-117138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:117135600-117137000	Enhancers	Fetal Stomach	stomach
15	chr12:117135600-117141400	Weak transcription	Right Atrium	heart
16	chr12:117135600-117147000	Weak transcription	Gastric	stomach
17	chr12:117135800-117137400	Weak transcription	Placenta	Placenta
18	chr12:117135800-117146400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:117136000-117136800	Enhancers	Fetal Intestine Large	intestine
20	chr12:117136000-117136800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:117136200-117136800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:117136400-117136800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:117136400-117136800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:117136400-117137000	Enhancers	Fetal Intestine Small	intestine
25	chr12:117136600-117136800	Enhancers	Fetal Thymus	thymus
26	chr12:117136600-117136800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:117136600-117145600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:117136600-117145600	Weak transcription	Right Ventricle	heart
29	chr12:117136600-117146600	Weak transcription	Ovary	ovary
30	chr12:117136800-117141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:117136800-117141200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:117136800-117144800	Weak transcription	Fetal Thymus	thymus
33	chr12:117136800-117146400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:117136800-117146400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:117137000-117141200	Weak transcription	Liver	Liver
36	chr12:117137000-117141200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:117137000-117141200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:117137400-117137600	Enhancers	Placenta	Placenta
39	chr12:117137400-117138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:117137800-117146600	Weak transcription	Pancreas	Pancrea
41	chr12:117138000-117138200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:117138200-117138400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:117138200-117141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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