Variant report

Variant	nsv1010253
Chromosome Location	chr2:184508963-184573763
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	chr2:184533926..184535731-chr2:184543881..184546242,2	MCF-7	breast:
2	chr2:184533926..184535731-chr2:184543881..184546242,2	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4666931	chr2:184508963-184508964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544349404	chr2:184508979-184508980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182628421	chr2:184508996-184508997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140039787	chr2:184529202-184529203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557179758	chr2:184529278-184529279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375395330	chr2:184529306-184529307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536469659	chr2:184529326-184529327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367756753	chr2:184529352-184529353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149846297	chr2:184529389-184529390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572905214	chr2:184529472-184529473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7588750	chr2:184529500-184529501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558156680	chr2:184529523-184529524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114850888	chr2:184529582-184529583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570245846	chr2:184529620-184529621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543672946	chr2:184529642-184529643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144911881	chr2:184529646-184529647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201398717	chr2:184529650-184529651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185860555	chr2:184529664-184529665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559581686	chr2:184529685-184529686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528631456	chr2:184529686-184529687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551465111	chr2:184529690-184529691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551895745	chr2:184529707-184529708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73048109	chr2:184529758-184529759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368118255	chr2:184529763-184529764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111966222	chr2:184529798-184529799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550868318	chr2:184529827-184529828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567571492	chr2:184529833-184529834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536019772	chr2:184529881-184529882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146144665	chr2:184529902-184529903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566134625	chr2:184529907-184529908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377138727	chr2:184529911-184529912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35946288	chr2:184529942-184529943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377677982	chr2:184529944-184529945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538759176	chr2:184530022-184530023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558246322	chr2:184530039-184530040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574866131	chr2:184530059-184530060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190253794	chr2:184530085-184530086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557189224	chr2:184530119-184530120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574314673	chr2:184530132-184530133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542848830	chr2:184530267-184530268	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs1901976	chr2:184530293-184530294	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10208561	chr2:184530329-184530330	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183256991	chr2:184530409-184530410	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545486836	chr2:184530411-184530412	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs16824903	chr2:184530453-184530454	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112796468	chr2:184530473-184530474	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551004972	chr2:184530479-184530480	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561158559	chr2:184530492-184530493	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368262144	chr2:184530555-184530556	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530052863	chr2:184530607-184530608	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Ovarian clear cell carcinoma	21343371	CNVD
Obesity	21131291	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184508200-184509000	Enhancers	Fetal Heart	heart
2	chr2:184529200-184529600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:184529600-184530000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:184529800-184530600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:184529800-184531400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:184529800-184531800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:184529800-184531800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:184530000-184530400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:184530000-184530800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:184530000-184531200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:184530000-184531200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:184530000-184531200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:184530000-184531800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:184530200-184530400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:184530200-184530600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:184530200-184530600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:184530200-184530600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:184530200-184530800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:184530200-184531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:184530200-184531200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:184530200-184531200	Enhancers	Fetal Stomach	stomach
22	chr2:184530200-184531600	Enhancers	Brain Anterior Caudate	brain
23	chr2:184530200-184531800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:184530200-184531800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:184530200-184531800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:184530400-184530600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:184530400-184530800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:184530400-184530800	Enhancers	Colon Smooth Muscle	Colon
29	chr2:184530400-184530800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr2:184530400-184531200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:184530400-184531200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:184530400-184531200	Enhancers	NH-A	brain
33	chr2:184530400-184531800	Enhancers	HSMMtube	muscle
34	chr2:184530600-184530800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:184530800-184531800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:184530800-184531800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:184530800-184532800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:184531200-184533000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:184531800-184533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:184532800-184533600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:184533000-184533200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:184533000-184533200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:184542800-184544200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr2:184542800-184544200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr2:184543000-184543600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr2:184543200-184544000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr2:184543400-184544200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr2:184543400-184544200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr2:184544000-184544200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
50	chr2:184561200-184561800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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