Variant report

Variant	esv12013
Chromosome Location	chr2:32478643-32480258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32479156..32481835-chr2:32486944..32488705,2	MCF-7	breast:
2	chr2:32474270..32479271-chr2:32479320..32483848,6	K562	blood:
3	chr2:32477535..32481572-chr2:32495523..32499136,3	K562	blood:
4	chr2:32473322..32475568-chr2:32480051..32482109,2	K562	blood:
5	chr2:32470343..32473625-chr2:32476011..32478727,4	K562	blood:
6	chr2:32474270..32479271-chr2:32479320..32483848,6	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532332956	chr2:32478644-32478645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376049443	chr2:32478733-32478734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552442593	chr2:32478743-32478744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138474205	chr2:32478762-32478763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528226762	chr2:32478773-32478774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548328192	chr2:32478784-32478785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568015930	chr2:32478787-32478788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536643126	chr2:32478850-32478851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551251770	chr2:32478860-32478861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571095704	chr2:32478861-32478862	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539625823	chr2:32478862-32478863	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553178360	chr2:32478878-32478879	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188560201	chr2:32478888-32478889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181283285	chr2:32478910-32478911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs472101	chr2:32478916-32478917	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112482323	chr2:32478921-32478922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544326989	chr2:32478973-32478974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563590187	chr2:32478974-32478975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200717595	chr2:32478994-32478995	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577100203	chr2:32479011-32479012	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370173383	chr2:32479015-32479016	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546001494	chr2:32479030-32479031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71407436	chr2:32479033-32479034	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36108344	chr2:32479053-32479054	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559562488	chr2:32479058-32479059	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139350577	chr2:32479178-32479179	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538030157	chr2:32479211-32479212	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532190673	chr2:32479216-32479217	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530514392	chr2:32479242-32479243	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550336826	chr2:32479248-32479249	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185943896	chr2:32479366-32479367	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374931564	chr2:32479387-32479388	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539716086	chr2:32479399-32479400	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34108549	chr2:32479421-32479422	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397697157	chr2:32479423-32479424	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546902996	chr2:32479467-32479468	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566682964	chr2:32479491-32479492	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535656888	chr2:32479555-32479556	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533775260	chr2:32479556-32479557	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367820837	chr2:32479563-32479564	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112687939	chr2:32479582-32479583	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536250516	chr2:32479588-32479589	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575690442	chr2:32479624-32479625	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146041278	chr2:32479650-32479651	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61379576	chr2:32479704-32479705	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138545105	chr2:32479707-32479708	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76105852	chr2:32479709-32479710	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189239290	chr2:32479749-32479750	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546086943	chr2:32479750-32479751	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559696940	chr2:32479785-32479786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:32452200-32479400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:32463600-32487000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:32475000-32481200	Weak transcription	Fetal Heart	heart
8	chr2:32476400-32484200	Weak transcription	Lung	lung
9	chr2:32476600-32479000	Weak transcription	HepG2	liver
10	chr2:32476600-32480000	Weak transcription	Spleen	Spleen
11	chr2:32477600-32486800	Weak transcription	Primary B cells from cord blood	blood
12	chr2:32478400-32478800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:32478600-32479400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:32478800-32479800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:32479000-32480200	Enhancers	HepG2	liver
16	chr2:32479400-32479600	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:32479600-32483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:32479800-32480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:32480000-32480200	ZNF genes & repeats	Spleen	Spleen
20	chr2:32480200-32481800	Weak transcription	HepG2	liver
21	chr2:32480200-32482400	Weak transcription	Spleen	Spleen
22	chr2:32480200-32488000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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