Variant report

Variant	nsv963188
Chromosome Location	chr2:188519250-188528550
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	chr2:188523368..188524314-chr2:188579524..188580267,2	K562	blood:
2	chr2:188523465..188524329-chr2:188707490..188708173,2	MCF-7	breast:

Extended variants
information (count: 358 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:358 , 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	rs372409888	chr2:188519263-188519264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188497557	chr2:188519282-188519283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556825134	chr2:188519340-188519341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534361270	chr2:188519422-188519423	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192909338	chr2:188519461-188519462	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553216529	chr2:188519467-188519468	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528278258	chr2:188519494-188519495	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370091246	chr2:188519514-188519515	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184867704	chr2:188519527-188519528	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568144850	chr2:188519538-188519539	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79733818	chr2:188519554-188519555	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550560505	chr2:188519555-188519556	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374011610	chr2:188519579-188519580	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568468820	chr2:188519589-188519590	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539767310	chr2:188519616-188519617	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370796090	chr2:188519621-188519622	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376716329	chr2:188519674-188519675	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574985806	chr2:188519678-188519679	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78111922	chr2:188519725-188519726	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371341378	chr2:188519737-188519738	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566760286	chr2:188519828-188519829	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534382896	chr2:188519846-188519847	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567359200	chr2:188519871-188519872	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373842086	chr2:188519898-188519899	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs187163246	chr2:188519905-188519906	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12465279	chr2:188519915-188519916	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12473394	chr2:188519980-188519981	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs578044826	chr2:188519988-188519989	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546151536	chr2:188520016-188520017	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564349960	chr2:188520041-188520042	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73034792	chr2:188520066-188520067	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191199251	chr2:188520131-188520132	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561690713	chr2:188520140-188520141	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528988447	chr2:188520152-188520153	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183525468	chr2:188520254-188520255	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188218215	chr2:188520315-188520316	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542712982	chr2:188520330-188520331	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566036961	chr2:188520331-188520332	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532752542	chr2:188520332-188520333	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs113450936	chr2:188520358-188520359	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141608615	chr2:188520405-188520406	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182233951	chr2:188520492-188520493	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549566579	chr2:188520499-188520500	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185578887	chr2:188520500-188520501	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538350066	chr2:188520501-188520502	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73034793	chr2:188520513-188520514	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578089440	chr2:188520520-188520521	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56325524	chr2:188520532-188520533	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73034794	chr2:188520554-188520555	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150510972	chr2:188520562-188520563	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188500200-188519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:188503000-188522000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:188503000-188525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:188509600-188519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:188513200-188522000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:188513800-188526400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:188514800-188521200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:188516200-188519400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:188517800-188519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:188519200-188519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:188519200-188522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:188519400-188519600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:188519400-188519600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:188519400-188519600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:188519400-188519600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:188519400-188519800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:188519400-188519800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:188519400-188519800	Active TSS	Adipose Nuclei	Adipose
19	chr2:188519400-188520400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:188519600-188519800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:188519600-188519800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:188519800-188520000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:188519800-188520000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:188519800-188520200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:188519800-188520800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:188519800-188534800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:188520000-188520200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:188520200-188520400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:188520200-188520800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:188520400-188520600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:188520400-188520600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:188520600-188520800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:188520600-188522200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:188520600-188523200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:188520800-188521000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:188520800-188521800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:188520800-188524400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:188521000-188522200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:188521200-188522200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:188521800-188524200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:188522000-188522200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:188522000-188523200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:188522200-188522600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:188522200-188523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:188522200-188523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:188522200-188526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:188522600-188522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:188522600-188526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:188522800-188526400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:188523000-188524000	Enhancers	HUES48 Cell Line	embryonic stem cell

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