Variant report

Variant	nsv962121
Chromosome Location	chr2:184943035-184956833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
2	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
3	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
4	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
5	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
6	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369449259	chr2:184943079-184943080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12479277	chr2:184943099-184943100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187118973	chr2:184943107-184943108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200030711	chr2:184943121-184943122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552413913	chr2:184943136-184943137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190368361	chr2:184943177-184943178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2030853	chr2:184943196-184943197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554290271	chr2:184943211-184943212	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs567805182	chr2:184943212-184943213	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs80048660	chr2:184943275-184943276	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs114189494	chr2:184943282-184943283	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs75516573	chr2:184943297-184943298	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs11894140	chr2:184943350-184943351	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs397868398	chr2:184943354-184943355	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs545389915	chr2:184943386-184943387	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559184731	chr2:184943399-184943400	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs377437256	chr2:184943414-184943415	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs544811944	chr2:184943428-184943429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs561429380	chr2:184943440-184943441	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs138608921	chr2:184943446-184943447	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs139267096	chr2:184943464-184943465	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs80150665	chr2:184943480-184943481	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs142695638	chr2:184943481-184943482	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs183361028	chr2:184943530-184943531	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs370336440	chr2:184943546-184943547	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs552216300	chr2:184943551-184943552	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs571454064	chr2:184943583-184943584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs569129792	chr2:184943604-184943605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35137712	chr2:184943619-184943620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531442408	chr2:184943731-184943732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543962829	chr2:184943775-184943776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1405195	chr2:184943776-184943777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567865915	chr2:184943793-184943794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533660733	chr2:184943889-184943890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553792712	chr2:184943903-184943904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144116906	chr2:184943940-184943941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373860584	chr2:184944017-184944018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186074966	chr2:184944029-184944030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189750048	chr2:184944123-184944124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11884812	chr2:184944170-184944171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538495230	chr2:184944195-184944196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555224587	chr2:184944333-184944334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376588082	chr2:184944391-184944392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575052750	chr2:184944442-184944443	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs183009691	chr2:184944462-184944463	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs34734089	chr2:184944502-184944503	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs370683301	chr2:184944611-184944612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553878730	chr2:184944612-184944613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148728695	chr2:184944650-184944651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs137863493	chr2:184944674-184944675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184937400-184945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:184941600-184943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:184943200-184943600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:184943200-184943600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:184943200-184943600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:184944400-184944600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:184945200-184946000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:184945600-184946000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:184945800-184946000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:184945800-184946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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