Variant report

Variant	esv11473
Chromosome Location	chr2:180411419-180415632
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: 126 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576964512	chr2:180411455-180411456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539530812	chr2:180411484-180411485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181247218	chr2:180411521-180411522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553583718	chr2:180411548-180411549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141914305	chr2:180411550-180411551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374663135	chr2:180411551-180411552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368720465	chr2:180411596-180411597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147470456	chr2:180411610-180411611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7424301	chr2:180411626-180411627	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139985452	chr2:180411627-180411628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34705332	chr2:180411702-180411703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145489482	chr2:180411774-180411775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536123483	chr2:180411787-180411788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147718063	chr2:180411810-180411811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564135145	chr2:180411926-180411927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533288972	chr2:180412041-180412042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549845461	chr2:180412059-180412060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562567517	chr2:180412097-180412098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530781838	chr2:180412213-180412214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555743164	chr2:180412223-180412224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531504555	chr2:180412256-180412257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575506373	chr2:180412335-180412336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568302935	chr2:180412343-180412344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552893739	chr2:180412362-180412363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547457796	chr2:180412426-180412427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572693363	chr2:180412463-180412464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570448518	chr2:180412524-180412525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539569716	chr2:180412532-180412533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186077549	chr2:180412544-180412545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576578843	chr2:180412606-180412607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139910385	chr2:180412632-180412633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149847138	chr2:180412649-180412650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375530160	chr2:180412736-180412737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191022797	chr2:180412768-180412769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541314814	chr2:180412790-180412791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543303987	chr2:180412881-180412882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557761800	chr2:180412883-180412884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182311278	chr2:180412897-180412898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71425635	chr2:180412958-180412959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186101290	chr2:180412991-180412992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558008654	chr2:180412996-180412997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531415790	chr2:180413019-180413020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541959892	chr2:180413060-180413061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139887932	chr2:180413135-180413136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71401746	chr2:180413136-180413137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34315008	chr2:180413156-180413157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138866930	chr2:180413159-180413160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190518294	chr2:180413160-180413161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149025544	chr2:180413195-180413196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182784890	chr2:180413200-180413201	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:41 , 50 per page) page: 1

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

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