Variant report

Variant	nsv1012880
Chromosome Location	chr3:179772283-179835563
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	chr3:179646877..179647417-chr3:179781317..179782004,2	MCF-7	breast:
2	chr3:179647020..179647530-chr3:179802746..179803311,2	MCF-7	breast:

Extended variants
information (count: 2150 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2150 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180722637	chr3:179774214-179774215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114168073	chr3:179774215-179774216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546689847	chr3:179774258-179774259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73180076	chr3:179774266-179774267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146690924	chr3:179774375-179774376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558455178	chr3:179774393-179774394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568675288	chr3:179774410-179774411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4437142	chr3:179774443-179774444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539333182	chr3:179774460-179774461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537668581	chr3:179774465-179774466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73883484	chr3:179774482-179774483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574457408	chr3:179774499-179774500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540363120	chr3:179774605-179774606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2140079	chr3:179774677-179774678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553484039	chr3:179774679-179774680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184931351	chr3:179774694-179774695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545701478	chr3:179774717-179774718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536627400	chr3:179774761-179774762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556562057	chr3:179774803-179774804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565595506	chr3:179774839-179774840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531099403	chr3:179774857-179774858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140249966	chr3:179774960-179774961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531824868	chr3:179774963-179774964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561395755	chr3:179774994-179774995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530130001	chr3:179775022-179775023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111511551	chr3:179775028-179775029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547732219	chr3:179775046-179775047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143974363	chr3:179775056-179775057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576259825	chr3:179775136-179775137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77304021	chr3:179775138-179775139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113923697	chr3:179775152-179775153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375090577	chr3:179775159-179775160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146883103	chr3:179775234-179775235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9842944	chr3:179775251-179775252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537608694	chr3:179775260-179775261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199609969	chr3:179775313-179775314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568489327	chr3:179775361-179775362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115227341	chr3:179775414-179775415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140696908	chr3:179775440-179775441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534295459	chr3:179775455-179775456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533629488	chr3:179775458-179775459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371714709	chr3:179775533-179775534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113401008	chr3:179775540-179775541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545836087	chr3:179775543-179775544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9823521	chr3:179775601-179775602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75540668	chr3:179775604-179775605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544932469	chr3:179775641-179775642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553789872	chr3:179775654-179775655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111718746	chr3:179775769-179775770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561322307	chr3:179775841-179775842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179774200-179774600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:179774200-179774800	Enhancers	HMEC	breast
3	chr3:179774600-179777200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:179776800-179777400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:179777200-179777800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:179777800-179791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:179788600-179788800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:179788600-179789200	Enhancers	Dnd41	blood
9	chr3:179788800-179789000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr3:179788800-179789200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:179788800-179791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:179789000-179789200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:179789000-179791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:179789200-179790400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:179789400-179790400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:179790000-179791400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:179790400-179791000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:179790400-179791200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:179790400-179791400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:179790400-179791600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:179790400-179791800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:179790400-179791800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:179790400-179791800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:179790800-179791400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:179791000-179791200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:179791000-179791400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:179791000-179792400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:179791200-179791800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:179791200-179792400	Enhancers	HMEC	breast
30	chr3:179791200-179796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:179791600-179796400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:179791800-179792000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:179791800-179792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:179791800-179796400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:179792000-179792400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:179792400-179796400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:179792400-179809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:179796400-179796800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:179796400-179797200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:179796400-179797200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:179796600-179797200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:179803000-179803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:179803400-179803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:179803600-179804600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:179809800-179810600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:179810600-179843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:179811400-179811800	Enhancers	Pancreas	Pancrea
48	chr3:179811400-179811800	Enhancers	HepG2	liver
49	chr3:179811800-179812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:179812600-179813000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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