Variant report

Variant	esv3409384
Chromosome Location	chr2:178837356-178844904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178681561..178684546-chr2:178836153..178838637,2	K562	blood:
2	chr2:178814531..178817473-chr2:178843941..178845448,2	K562	blood:
3	chr2:178823421..178826085-chr2:178834912..178837926,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549542578	chr2:178837381-178837382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183335231	chr2:178837390-178837391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187280403	chr2:178837414-178837415	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs549362455	chr2:178837451-178837452	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs565896456	chr2:178837452-178837453	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs535136982	chr2:178837454-178837455	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs374233250	chr2:178837481-178837482	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs558256426	chr2:178837492-178837493	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs17402102	chr2:178837506-178837507	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537678326	chr2:178837524-178837525	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs557577101	chr2:178837579-178837580	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs116226400	chr2:178837584-178837585	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs371624219	chr2:178837594-178837595	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs141992562	chr2:178837603-178837604	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs374208978	chr2:178837624-178837625	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs74564885	chr2:178837625-178837626	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs377610087	chr2:178837638-178837639	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs193159076	chr2:178837687-178837688	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs375866077	chr2:178837689-178837690	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs541141692	chr2:178837693-178837694	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs563866537	chr2:178837696-178837697	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs13019623	chr2:178837704-178837705	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs58490894	chr2:178837723-178837724	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528941191	chr2:178837725-178837726	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs563097233	chr2:178837757-178837758	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs184581306	chr2:178837791-178837792	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs12993458	chr2:178837796-178837797	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs12615720	chr2:178837811-178837812	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566088963	chr2:178837821-178837822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528506008	chr2:178837838-178837839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs60230155	chr2:178837847-178837848	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568890335	chr2:178837855-178837856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149392131	chr2:178837860-178837861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12612301	chr2:178837863-178837864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557589514	chr2:178837864-178837865	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78787233	chr2:178837873-178837874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369836066	chr2:178837954-178837955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536966531	chr2:178837989-178837990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553361311	chr2:178837998-178837999	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178834600-178837600	Enhancers	HepG2	liver
2	chr2:178837000-178837400	Enhancers	K562	blood
3	chr2:178837200-178837400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:178837200-178837400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:178837200-178837400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:178837400-178837600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:178837400-178837800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:178837400-178837800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:178837400-178837800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
10	chr2:178837400-178837800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr2:178837400-178837800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:178837400-178837800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:178837400-178837800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:178837400-178837800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:178837400-178837800	Flanking Active TSS	K562	blood
16	chr2:178837600-178837800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:178837600-178837800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:178837600-178838000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:178837800-178838000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:178837800-178838000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:178837800-178838000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr2:178837800-178838000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:178837800-178838000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:178837800-178838000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:178837800-178838000	Active TSS	K562	blood

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