Variant report

Variant	nsv1011707
Chromosome Location	chr2:180409617-180422125
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	chr2:180405427..180408122-chr2:180413189..180415887,2	MCF-7	breast:

Extended variants
information (count: 392 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149531050	chr2:180409632-180409633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202112513	chr2:180409679-180409680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201263673	chr2:180409689-180409690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558404658	chr2:180409700-180409701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373686757	chr2:180409701-180409702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574911298	chr2:180409727-180409728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543822476	chr2:180409761-180409762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554650615	chr2:180409762-180409763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574492384	chr2:180409945-180409946	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574373088	chr2:180409950-180409951	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540311898	chr2:180409955-180409956	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560698844	chr2:180409957-180409958	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186842593	chr2:180409963-180409964	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546541798	chr2:180410020-180410021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563140425	chr2:180410037-180410038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542186445	chr2:180410067-180410068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192759993	chr2:180410094-180410095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548341023	chr2:180410095-180410096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568433428	chr2:180410109-180410110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13408803	chr2:180410133-180410134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547849913	chr2:180410246-180410247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575711250	chr2:180410305-180410306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538414494	chr2:180410343-180410344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11894850	chr2:180410371-180410372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11894851	chr2:180410373-180410374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564311897	chr2:180410509-180410510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533023919	chr2:180410524-180410525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144183205	chr2:180410532-180410533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187802461	chr2:180410586-180410587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574354952	chr2:180410588-180410589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539981767	chr2:180410593-180410594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540025515	chr2:180410621-180410622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553874702	chr2:180410639-180410640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370746919	chr2:180410673-180410674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77134853	chr2:180410731-180410732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529128122	chr2:180410732-180410733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113467293	chr2:180410749-180410750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193127788	chr2:180410806-180410807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563071691	chr2:180410847-180410848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77327223	chr2:180410866-180410867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542494383	chr2:180410921-180410922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201436037	chr2:180410937-180410938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373649879	chr2:180410938-180410939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184898807	chr2:180410954-180410955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189228375	chr2:180410960-180410961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79943166	chr2:180410975-180410976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113713114	chr2:180411015-180411016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547593129	chr2:180411043-180411044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35550466	chr2:180411059-180411060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116795727	chr2:180411084-180411085	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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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	22522925	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180403800-180409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180404000-180410000	Strong transcription	Liver	Liver
3	chr2:180404200-180409800	Weak transcription	Gastric	stomach
4	chr2:180405400-180410600	Enhancers	HepG2	liver
5	chr2:180407000-180411400	Weak transcription	Right Atrium	heart
6	chr2:180407800-180410000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:180408400-180410600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:180408600-180409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:180408800-180414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:180408800-180415600	Weak transcription	Fetal Brain Female	brain
12	chr2:180409000-180409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:180409600-180409800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:180409600-180410200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:180409800-180410000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:180409800-180410000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:180409800-180410000	Enhancers	Gastric	stomach
18	chr2:180409800-180410000	Enhancers	Lung	lung
19	chr2:180409800-180411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:180410000-180410200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:180410000-180415400	Weak transcription	Liver	Liver
22	chr2:180410200-180415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:180410600-180414000	Weak transcription	HepG2	liver
24	chr2:180410600-180416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:180411400-180411600	ZNF genes & repeats	Right Atrium	heart
26	chr2:180411400-180411800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:180411600-180412200	Weak transcription	Right Atrium	heart
28	chr2:180413600-180413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:180413800-180414000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr2:180413800-180414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:180413800-180416200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr2:180414000-180414600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr2:180414000-180416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:180414000-180416400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:180414000-180416800	Enhancers	HepG2	liver
36	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:180414400-180415000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:180414600-180415000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:180414600-180415400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:180414800-180415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:180414800-180415600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:180414800-180415600	Enhancers	Fetal Brain Male	brain
44	chr2:180414800-180416000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr2:180415000-180415200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:180415000-180416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:180415200-180415600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:180415400-180415800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:180415400-180415800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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