Variant report

Variant	nsv590421
Chromosome Location	chr3:61127304-61128132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9857606	chr3:61127304-61127305	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566794790	chr3:61127305-61127306	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534222817	chr3:61127322-61127323	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9877573	chr3:61127323-61127324	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114913815	chr3:61127389-61127390	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544376166	chr3:61127447-61127448	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556645983	chr3:61127499-61127500	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570209346	chr3:61127508-61127509	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148720929	chr3:61127625-61127626	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542217992	chr3:61127658-61127659	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376285623	chr3:61127676-61127677	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114674281	chr3:61127679-61127680	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563622303	chr3:61127715-61127716	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369825485	chr3:61127720-61127721	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528354279	chr3:61127759-61127760	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77116472	chr3:61127760-61127761	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370138132	chr3:61127788-61127789	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75153282	chr3:61127794-61127795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200645377	chr3:61127795-61127796	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183915546	chr3:61127876-61127877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574813282	chr3:61127886-61127887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568901421	chr3:61127925-61127926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371311131	chr3:61127928-61127929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13087102	chr3:61127936-61127937	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188339384	chr3:61128027-61128028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180757759	chr3:61128072-61128073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551934123	chr3:61128087-61128088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75643472	chr3:61128105-61128106	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	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
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61107800-61128000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61126200-61128200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:61126200-61128200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:61126200-61129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:61126600-61127600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:61126600-61127600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr3:61126600-61127600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:61126800-61127600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:61126800-61127800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:61126800-61127800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:61126800-61128200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:61126800-61128200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:61127000-61127800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:61127200-61127400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:61127200-61127600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr3:61127200-61127600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:61127200-61127600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:61127200-61127600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:61127200-61127800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:61127400-61127600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:61127600-61128200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:61127600-61128200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:61127600-61128400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:61127600-61128400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:61127600-61128600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:61127600-61128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:61127600-61129200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:61127600-61129200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:61127600-61129200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:61127800-61128200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:61127800-61128200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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