Variant report

Variant	nsv1011399
Chromosome Location	chr2:35859748-35937722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
2	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
3	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
4	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
5	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
6	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
7	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
8	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:

No data

Extended variants
information (count: 2041 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2041 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114323356	chr2:35860016-35860017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577070476	chr2:35860020-35860021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190909249	chr2:35860036-35860037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180813206	chr2:35860074-35860075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138679152	chr2:35860167-35860168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542278349	chr2:35860171-35860172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185192000	chr2:35860175-35860176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528158712	chr2:35860262-35860263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368901267	chr2:35860368-35860369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190886071	chr2:35860420-35860421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571348462	chr2:35860429-35860430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56181682	chr2:35860431-35860432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565007998	chr2:35860469-35860470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550851742	chr2:35860518-35860519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553197301	chr2:35860545-35860546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183269516	chr2:35860554-35860555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369233500	chr2:35860628-35860629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187204983	chr2:35860661-35860662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35459711	chr2:35860681-35860682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536579690	chr2:35860683-35860684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554653296	chr2:35860705-35860706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568620191	chr2:35860737-35860738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79924949	chr2:35860820-35860821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534032271	chr2:35860833-35860834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7571190	chr2:35860852-35860853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191664973	chr2:35860857-35860858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142853380	chr2:35860926-35860927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147434387	chr2:35860944-35860945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557701136	chr2:35860971-35860972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531010972	chr2:35861008-35861009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374663335	chr2:35861009-35861010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574768824	chr2:35861076-35861077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139123559	chr2:35861079-35861080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17017132	chr2:35861090-35861091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183123214	chr2:35861155-35861156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116773947	chr2:35861208-35861209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564979908	chr2:35861273-35861274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149943994	chr2:35861277-35861278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550774761	chr2:35861353-35861354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17017134	chr2:35861398-35861399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530010530	chr2:35861408-35861409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548511457	chr2:35861447-35861448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144729114	chr2:35861451-35861452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534209092	chr2:35861462-35861463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558749740	chr2:35861469-35861470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17017136	chr2:35861472-35861473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7560712	chr2:35861485-35861486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556322225	chr2:35861491-35861492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574731558	chr2:35861504-35861505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556101950	chr2:35861522-35861523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35860000-35891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35876000-35876800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:35876200-35878600	Enhancers	Fetal Intestine Large	intestine
4	chr2:35876600-35877200	Enhancers	Fetal Intestine Small	intestine
5	chr2:35876800-35877200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:35876800-35877200	Enhancers	Small Intestine	intestine
7	chr2:35877000-35877600	Enhancers	Liver	Liver
8	chr2:35891000-35892000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35901800-35902000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:35902000-35902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:35902000-35909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:35902600-35903200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:35902800-35903600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:35907400-35907600	Enhancers	Pancreas	Pancrea
15	chr2:35908400-35909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:35908400-35909200	Enhancers	Fetal Intestine Large	intestine
17	chr2:35909000-35909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:35909200-35910800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:35910000-35910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35910800-35911000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35910800-35911000	Enhancers	Fetal Intestine Large	intestine
22	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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