Variant report

Variant	esv3525540
Chromosome Location	chr2:180410257-180416805
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: 202 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575711250	chr2:180410305-180410306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538414494	chr2:180410343-180410344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11894850	chr2:180410371-180410372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11894851	chr2:180410373-180410374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564311897	chr2:180410509-180410510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533023919	chr2:180410524-180410525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144183205	chr2:180410532-180410533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187802461	chr2:180410586-180410587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574354952	chr2:180410588-180410589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539981767	chr2:180410593-180410594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540025515	chr2:180410621-180410622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553874702	chr2:180410639-180410640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370746919	chr2:180410673-180410674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77134853	chr2:180410731-180410732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529128122	chr2:180410732-180410733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113467293	chr2:180410749-180410750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193127788	chr2:180410806-180410807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563071691	chr2:180410847-180410848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77327223	chr2:180410866-180410867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542494383	chr2:180410921-180410922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201436037	chr2:180410937-180410938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373649879	chr2:180410938-180410939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184898807	chr2:180410954-180410955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189228375	chr2:180410960-180410961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79943166	chr2:180410975-180410976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113713114	chr2:180411015-180411016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547593129	chr2:180411043-180411044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35550466	chr2:180411059-180411060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116795727	chr2:180411084-180411085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531445010	chr2:180411153-180411154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532180794	chr2:180411237-180411238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144642369	chr2:180411309-180411310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10175103	chr2:180411313-180411314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568700419	chr2:180411327-180411328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181460996	chr2:180411330-180411331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548440760	chr2:180411381-180411382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184181952	chr2:180411383-180411384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188556252	chr2:180411391-180411392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111260543	chr2:180411396-180411397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576964512	chr2:180411455-180411456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539530812	chr2:180411484-180411485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181247218	chr2:180411521-180411522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553583718	chr2:180411548-180411549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141914305	chr2:180411550-180411551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374663135	chr2:180411551-180411552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368720465	chr2:180411596-180411597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147470456	chr2:180411610-180411611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs7424301	chr2:180411626-180411627	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139985452	chr2:180411627-180411628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs34705332	chr2:180411702-180411703	Weak transcription ZNF genes & repeats	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180405400-180410600	Enhancers	HepG2	liver
2	chr2:180407000-180411400	Weak transcription	Right Atrium	heart
3	chr2:180408400-180410600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:180408800-180414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:180408800-180415600	Weak transcription	Fetal Brain Female	brain
7	chr2:180409800-180411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:180410000-180415400	Weak transcription	Liver	Liver
9	chr2:180410200-180415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:180410600-180414000	Weak transcription	HepG2	liver
11	chr2:180410600-180416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:180411400-180411600	ZNF genes & repeats	Right Atrium	heart
13	chr2:180411400-180411800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:180411600-180412200	Weak transcription	Right Atrium	heart
15	chr2:180413600-180413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:180413800-180414000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr2:180413800-180414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:180413800-180416200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:180414000-180414600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr2:180414000-180416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:180414000-180416400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:180414000-180416800	Enhancers	HepG2	liver
23	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:180414400-180415000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:180414600-180415000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:180414600-180415400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:180414800-180415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:180414800-180415600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:180414800-180415600	Enhancers	Fetal Brain Male	brain
31	chr2:180414800-180416000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:180415000-180415200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:180415000-180416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:180415200-180415600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:180415400-180415800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:180415400-180415800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:180415400-180415800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:180415400-180416200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:180415400-180416600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:180415400-180416600	Enhancers	Liver	Liver
42	chr2:180415600-180415800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:180415600-180416000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:180415600-180416200	Enhancers	Fetal Brain Female	brain
45	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
46	chr2:180415800-180416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:180415800-180416600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:180416000-180416400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr2:180416200-180416400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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