Variant report

Variant	nsv876929
Chromosome Location	chr3:68508137-68565824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:68506304..68508381-chr3:68512161..68513963,2	MCF-7	breast:
2	chr3:68548311..68550713-chr3:68552898..68555029,2	MCF-7	breast:
3	chr3:68548311..68550713-chr3:68552898..68555029,2	MCF-7	breast:
4	chr3:68506304..68508381-chr3:68512161..68513963,2	MCF-7	breast:

Extended variants
information (count: 1513 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1513 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4260447	chr3:68508137-68508138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4364169	chr3:68508150-68508151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559820461	chr3:68508172-68508173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367886573	chr3:68508179-68508180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6765886	chr3:68508202-68508203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551571626	chr3:68508210-68508211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557097533	chr3:68508241-68508242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186051608	chr3:68508262-68508263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190972298	chr3:68508265-68508266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13076215	chr3:68508276-68508277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567239475	chr3:68508309-68508310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367860770	chr3:68508343-68508344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2221757	chr3:68508344-68508345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553229134	chr3:68508350-68508351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145957516	chr3:68508356-68508357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538796024	chr3:68508380-68508381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528069265	chr3:68508390-68508391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75006805	chr3:68508409-68508410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138781824	chr3:68508418-68508419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543946910	chr3:68508431-68508432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557206565	chr3:68508440-68508441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115332305	chr3:68508461-68508462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566820833	chr3:68508630-68508631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368780309	chr3:68508639-68508640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559959192	chr3:68508640-68508641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs5849837	chr3:68508649-68508650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397751652	chr3:68508651-68508652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1510349	chr3:68508692-68508693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545171041	chr3:68508742-68508743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565154637	chr3:68508775-68508776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183971375	chr3:68508824-68508825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144732380	chr3:68508869-68508870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567297196	chr3:68508884-68508885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529683946	chr3:68508887-68508888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148094966	chr3:68508908-68508909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572343993	chr3:68508936-68508937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566725821	chr3:68508941-68508942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369480396	chr3:68508998-68508999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369904040	chr3:68509040-68509041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538955599	chr3:68509098-68509099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552364542	chr3:68509126-68509127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569054645	chr3:68509135-68509136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538063655	chr3:68509136-68509137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557421723	chr3:68509137-68509138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574062193	chr3:68509144-68509145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187894614	chr3:68509159-68509160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536604189	chr3:68509166-68509167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553115766	chr3:68509180-68509181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192573634	chr3:68509186-68509187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545281653	chr3:68509221-68509222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68507200-68508400	Enhancers	Fetal Stomach	stomach
2	chr3:68507400-68509200	Enhancers	NHDF-Ad	bronchial
3	chr3:68507800-68508400	Enhancers	Fetal Lung	lung
4	chr3:68508200-68508400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:68508200-68508400	Enhancers	NHLF	lung
6	chr3:68508400-68520000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:68509000-68509200	Enhancers	NHLF	lung
8	chr3:68513800-68514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:68513800-68514400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr3:68514400-68516800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:68514800-68515600	Enhancers	Colon Smooth Muscle	Colon
12	chr3:68515200-68515600	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:68515600-68516600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:68516600-68516800	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:68516600-68517000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:68516800-68517400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:68520000-68520800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:68520600-68520800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr3:68520800-68522600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:68520800-68523200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:68521600-68523000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:68522000-68523000	Enhancers	Colon Smooth Muscle	Colon
23	chr3:68522600-68523000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:68523000-68531600	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:68527000-68527400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:68527200-68527600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:68529000-68529200	Enhancers	Fetal Stomach	stomach
28	chr3:68529200-68530400	Weak transcription	Fetal Stomach	stomach
29	chr3:68529800-68532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:68530400-68534600	Enhancers	Fetal Stomach	stomach
31	chr3:68530600-68531000	Enhancers	Fetal Lung	lung
32	chr3:68531000-68531400	Weak transcription	Fetal Lung	lung
33	chr3:68531400-68533000	Enhancers	Fetal Lung	lung
34	chr3:68531600-68532400	Enhancers	Rectal Smooth Muscle	rectum
35	chr3:68531600-68533000	Enhancers	Colon Smooth Muscle	Colon
36	chr3:68532000-68535000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:68533000-68534000	Weak transcription	Fetal Lung	lung
38	chr3:68533600-68534600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:68534000-68534600	Enhancers	Fetal Lung	lung
40	chr3:68544600-68545800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:68544800-68545800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:68545800-68549000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:68549000-68549400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:68549400-68549600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:68549600-68550000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:68552600-68554000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:68554000-68556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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