Variant report

Variant	nsv821852
Chromosome Location	chr2:188985216-189000907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72573103..72574031-chr2:188995710..188996539,2	MCF-7	breast:
2	chr2:188994299..188994907-chr2:189145390..189145988,2	MCF-7	breast:
3	chr11:9480847..9482961-chr2:188994843..188997685,2	MCF-7	breast:
4	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
5	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:

Variant related genes	Relation type
ENSG00000166478	chromatin interactions
ENSG00000268403	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568983306	chr2:188985227-188985228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555177483	chr2:188985264-188985265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113082616	chr2:188985280-188985281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557809674	chr2:188985284-188985285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577310143	chr2:188985298-188985299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541393645	chr2:188985299-188985300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553413743	chr2:188985314-188985315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112205275	chr2:188985351-188985352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542366497	chr2:188985431-188985432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186948279	chr2:188985468-188985469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541090086	chr2:188985469-188985470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117186838	chr2:188985472-188985473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546471774	chr2:188985499-188985500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564577154	chr2:188985564-188985565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145286671	chr2:188985627-188985628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80214375	chr2:188985652-188985653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11674914	chr2:188985663-188985664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368072762	chr2:188985669-188985670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35259327	chr2:188985674-188985675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567737298	chr2:188985681-188985682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189975086	chr2:188985749-188985750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137874924	chr2:188985783-188985784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551977604	chr2:188985802-188985803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74865000	chr2:188985829-188985830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142689597	chr2:188985846-188985847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569025661	chr2:188985898-188985899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113784846	chr2:188985928-188985929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150581082	chr2:188985929-188985930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548677440	chr2:188985966-188985967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557938338	chr2:188986001-188986002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566974285	chr2:188986034-188986035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111421113	chr2:188986052-188986053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113198315	chr2:188986090-188986091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78581854	chr2:188986129-188986130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138596292	chr2:188986130-188986131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12992671	chr2:188986175-188986176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs183095877	chr2:188986289-188986290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187694292	chr2:188986332-188986333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114026067	chr2:188986336-188986337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368518337	chr2:188986340-188986341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192364707	chr2:188986366-188986367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71020731	chr2:188986390-188986391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564714901	chr2:188986436-188986437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544694797	chr2:188986452-188986453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540550611	chr2:188986460-188986461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185659094	chr2:188986461-188986462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372368444	chr2:188986466-188986467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550649893	chr2:188986491-188986492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568814684	chr2:188986499-188986500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375146609	chr2:188986535-188986536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:188979000-189001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:188979400-189013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:188984800-188987400	Weak transcription	Fetal Heart	heart
5	chr2:188987400-188988400	Enhancers	Fetal Heart	heart
6	chr2:188987600-188987800	Enhancers	HMEC	breast
7	chr2:188987600-188988000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:188987800-188988000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:188987800-188988200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:188987800-188988200	Flanking Active TSS	HMEC	breast
11	chr2:188987800-188988400	Active TSS	K562	blood
12	chr2:188988000-188988200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:188988000-188988400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:188988000-188988400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:188988000-188988800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:188988000-188988800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:188988200-188988400	Active TSS	HMEC	breast
18	chr2:188988200-188988600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:188988200-188988800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr2:188988200-188988800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:188988200-188988800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:188988600-188994400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:188994400-188996400	Enhancers	Fetal Heart	heart
24	chr2:188994400-189003000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:188994800-188995200	Enhancers	Fetal Lung	lung
26	chr2:188995000-188995600	Enhancers	Placenta	Placenta
27	chr2:188996400-188997400	Weak transcription	Fetal Heart	heart
28	chr2:188996800-188997600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:188997000-188997800	Enhancers	Adipose Nuclei	Adipose
30	chr2:188997200-188997400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:188997200-188997400	Enhancers	Placenta	Placenta
32	chr2:188997200-188997600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:188997400-188997800	Enhancers	Fetal Heart	heart
34	chr2:188997400-188998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:188997800-188999000	Weak transcription	Fetal Heart	heart
36	chr2:188998800-188999400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:188998800-188999400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:188999000-189000200	Enhancers	Fetal Heart	heart

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