Variant report

Variant	esv3505279
Chromosome Location	chr2:180416057-180423555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 251 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549461330	chr2:180416065-180416066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs569521431	chr2:180416126-180416127	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539162027	chr2:180416136-180416137	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs559063242	chr2:180416168-180416169	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs111277359	chr2:180416177-180416178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs536802596	chr2:180416217-180416218	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs557223635	chr2:180416234-180416235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs114811715	chr2:180416257-180416258	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs542504118	chr2:180416393-180416394	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs552583216	chr2:180416402-180416403	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572478740	chr2:180416405-180416406	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146659138	chr2:180416419-180416420	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184855849	chr2:180416439-180416440	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531138857	chr2:180416466-180416467	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140254187	chr2:180416515-180416516	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372229024	chr2:180416550-180416551	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530364684	chr2:180416551-180416552	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4267476	chr2:180416576-180416577	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566891603	chr2:180416628-180416629	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs189217393	chr2:180416666-180416667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs180685962	chr2:180416695-180416696	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs112440661	chr2:180416836-180416837	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569206246	chr2:180416844-180416845	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs112744801	chr2:180416928-180416929	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs367958441	chr2:180416980-180416981	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs368020586	chr2:180416997-180416998	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs371493719	chr2:180417049-180417050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145312865	chr2:180417086-180417087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556915048	chr2:180417103-180417104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114822784	chr2:180417151-180417152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536168748	chr2:180417184-180417185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186362301	chr2:180417276-180417277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576211790	chr2:180417282-180417283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189193852	chr2:180417336-180417337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181831585	chr2:180417367-180417368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542803607	chr2:180417385-180417386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375846420	chr2:180417402-180417403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575286457	chr2:180417466-180417467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535156009	chr2:180417519-180417520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71425636	chr2:180417598-180417599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576433309	chr2:180417628-180417629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562674960	chr2:180417734-180417735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144959672	chr2:180417777-180417778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149074206	chr2:180417779-180417780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370026508	chr2:180417797-180417798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556925948	chr2:180417820-180417821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185973569	chr2:180417873-180417874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540940948	chr2:180417929-180417930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373471286	chr2:180417930-180417931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191828101	chr2:180417933-180417934	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180410600-180416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:180413800-180416200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr2:180414000-180416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:180414000-180416400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:180414000-180416800	Enhancers	HepG2	liver
7	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:180415000-180416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:180415400-180416200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:180415400-180416600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:180415400-180416600	Enhancers	Liver	Liver
14	chr2:180415600-180416200	Enhancers	Fetal Brain Female	brain
15	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
16	chr2:180415800-180416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:180415800-180416600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:180416000-180416400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr2:180416200-180416400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:180416200-180416400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr2:180416200-180416600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:180416200-180416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:180416200-180416600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:180416200-180420400	Weak transcription	Fetal Brain Female	brain
26	chr2:180416400-180416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:180416400-180417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:180416400-180417000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr2:180416400-180417400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:180416600-180416800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr2:180416600-180420000	Weak transcription	Liver	Liver
32	chr2:180416600-180421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:180416800-180417200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:180416800-180420000	Weak transcription	HepG2	liver
35	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:180417200-180423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:180417400-180418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:180418600-180418800	Weak transcription	Fetal Kidney	kidney
39	chr2:180418600-180419000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:180418800-180419000	Enhancers	Fetal Kidney	kidney
41	chr2:180419000-180422400	Weak transcription	Fetal Kidney	kidney
42	chr2:180419000-180422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:180420000-180420200	Enhancers	Liver	Liver
44	chr2:180420000-180422000	Enhancers	HepG2	liver
45	chr2:180420200-180420600	Weak transcription	Liver	Liver
46	chr2:180420400-180420600	Active TSS	Fetal Brain Female	brain
47	chr2:180420400-180420800	Active TSS	Right Atrium	heart
48	chr2:180420600-180420800	Enhancers	Liver	Liver
49	chr2:180420600-180420800	Flanking Active TSS	Fetal Brain Female	brain
50	chr2:180420600-180421400	Enhancers	Psoas Muscle	Psoas

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