Variant report

Variant	nsv817210
Chromosome Location	chr3:54365684-54511164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:54398589..54400441-chr3:54403161..54405917,2	MCF-7	breast:
2	chr3:54180351..54181371-chr3:54408193..54409184,9	MCF-7	breast:
3	chr3:54375152..54375990-chr3:54394183..54395021,3	MCF-7	breast:
4	chr3:54364920..54367293-chr3:54368876..54371609,2	K562	blood:
5	chr3:54462064..54462651-chr3:55047338..55047880,2	MCF-7	breast:
6	chr3:54371813..54373990-chr3:54376911..54378981,2	K562	blood:
7	chr3:54375027..54375647-chr3:54388254..54389644,4	MCF-7	breast:
8	chr3:54467613..54468517-chr3:54511646..54512238,3	MCF-7	breast:
9	chr3:53972769..53973308-chr3:54408265..54408788,2	MCF-7	breast:
10	chr3:54467585..54468369-chr3:54511234..54512210,5	MCF-7	breast:
11	chr3:54180353..54181315-chr3:54467438..54468079,2	MCF-7	breast:
12	chr3:54339706..54342583-chr3:54377955..54380864,2	MCF-7	breast:
13	chr3:54375174..54375975-chr3:54461350..54461870,2	MCF-7	breast:
14	chr3:54180378..54181313-chr3:54408336..54409118,3	MCF-7	breast:
15	chr3:54364920..54367293-chr3:54368876..54371609,2	K562	blood:
16	chr3:54375174..54375975-chr3:54461350..54461870,2	MCF-7	breast:
17	chr3:54375117..54375902-chr3:54387751..54388811,4	MCF-7	breast:
18	chr3:54375381..54375990-chr3:54394183..54394906,2	MCF-7	breast:
19	chr3:54375027..54375990-chr3:54387842..54389644,8	MCF-7	breast:
20	chr3:54375027..54375647-chr3:54388254..54389644,4	MCF-7	breast:
21	chr3:54375027..54375990-chr3:54387842..54389644,8	MCF-7	breast:
22	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
23	chr3:54371813..54373990-chr3:54376911..54378981,2	K562	blood:
24	chr3:53972762..53973440-chr3:54466985..54468092,3	MCF-7	breast:
25	chr3:54398589..54400441-chr3:54403161..54405917,2	MCF-7	breast:
26	chr3:54180383..54181251-chr3:54373358..54373893,2	MCF-7	breast:
27	chr3:54375117..54375902-chr3:54387751..54388811,4	MCF-7	breast:
28	chr3:54375381..54375990-chr3:54394183..54394906,2	MCF-7	breast:
29	chr3:54180408..54181091-chr3:54372500..54373456,2	MCF-7	breast:
30	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
31	chr3:54467626..54468675-chr3:54567589..54568828,8	MCF-7	breast:
32	chr3:53975890..53976731-chr3:54408411..54409245,4	MCF-7	breast:
33	chr3:54375152..54375990-chr3:54394183..54395021,3	MCF-7	breast:
34	chr3:53975728..53976241-chr3:54467635..54468465,2	MCF-7	breast:

No data

Extended variants
information (count: 3918 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3918 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139824034	chr3:54365697-54365698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149785524	chr3:54365733-54365734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544606135	chr3:54365774-54365775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575881275	chr3:54365802-54365803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544796630	chr3:54365812-54365813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564873953	chr3:54365814-54365815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571984303	chr3:54365829-54365830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541041416	chr3:54365833-54365834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560685098	chr3:54365855-54365856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574337996	chr3:54365880-54365881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115978216	chr3:54365922-54365923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543102469	chr3:54365928-54365929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192446640	chr3:54365929-54365930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529660049	chr3:54365951-54365952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552788870	chr3:54365972-54365973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566397718	chr3:54365998-54365999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549674592	chr3:54366025-54366026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12493513	chr3:54366031-54366032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12487180	chr3:54366073-54366074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73081650	chr3:54366081-54366082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537451505	chr3:54366090-54366091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532847610	chr3:54366131-54366132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570598922	chr3:54366132-54366133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538477301	chr3:54366143-54366144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558299641	chr3:54366151-54366152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572022838	chr3:54366152-54366153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540925654	chr3:54366155-54366156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141299665	chr3:54366160-54366161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574394863	chr3:54366163-54366164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543396289	chr3:54366165-54366166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563407007	chr3:54366244-54366245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184360892	chr3:54366246-54366247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75921549	chr3:54366259-54366260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559946763	chr3:54366282-54366283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145309028	chr3:54366296-54366297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568731506	chr3:54366298-54366299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548649592	chr3:54366307-54366308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34185673	chr3:54366364-54366365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530846350	chr3:54366374-54366375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114644787	chr3:54366402-54366403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570631024	chr3:54366404-54366405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539511550	chr3:54366429-54366430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145322591	chr3:54366434-54366435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188058092	chr3:54366449-54366450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565489834	chr3:54366503-54366504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534812157	chr3:54366504-54366505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554606833	chr3:54366529-54366530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111769146	chr3:54366604-54366605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73841974	chr3:54366610-54366611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368520266	chr3:54366642-54366643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54356600-54370200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:54359400-54367400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:54363200-54365800	Weak transcription	Hela-S3	cervix
4	chr3:54363800-54367800	Enhancers	Fetal Brain Male	brain
5	chr3:54364600-54368000	Enhancers	Brain Germinal Matrix	brain
6	chr3:54365000-54366200	Weak transcription	Fetal Brain Female	brain
7	chr3:54365800-54366000	Enhancers	Hela-S3	cervix
8	chr3:54366200-54366800	Enhancers	Fetal Brain Female	brain
9	chr3:54366800-54367400	Weak transcription	Fetal Brain Female	brain
10	chr3:54366800-54368000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:54367400-54368000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:54367400-54368000	Enhancers	Fetal Brain Female	brain
13	chr3:54367600-54368000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:54368000-54370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:54368000-54378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:54370200-54370400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:54370200-54370600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:54370600-54378200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:54371200-54373000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:54371800-54372400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:54373000-54373200	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr3:54373000-54376400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:54374400-54375400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:54374800-54375000	Enhancers	Ovary	ovary
25	chr3:54375000-54375200	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr3:54375000-54375400	Weak transcription	Hela-S3	cervix
27	chr3:54375400-54375600	Enhancers	Spleen	Spleen
28	chr3:54375400-54375600	Enhancers	Hela-S3	cervix
29	chr3:54375600-54380000	Weak transcription	Spleen	Spleen
30	chr3:54375600-54382000	Weak transcription	Hela-S3	cervix
31	chr3:54376200-54376600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:54376400-54377000	Enhancers	Pancreas	Pancrea
33	chr3:54376400-54377000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:54376400-54377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:54376600-54376800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:54376600-54376800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:54376600-54377600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:54376800-54377000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:54376800-54377000	Enhancers	Left Ventricle	heart
40	chr3:54376800-54377200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:54376800-54377200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:54376800-54377200	Enhancers	Fetal Muscle Trunk	muscle
43	chr3:54376800-54377200	Enhancers	Ovary	ovary
44	chr3:54376800-54378000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:54376800-54379800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:54377000-54377200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:54377000-54380400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:54377000-54380600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:54377200-54377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:54377200-54378600	Weak transcription	Ovary	ovary

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