Variant report

Variant	nsv437684
Chromosome Location	chr10:61354446-61367720
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	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:
2	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHYHIPL-3	chr10:61354710-61354809	ENSG00000235140
2	lnc-PHYHIPL-3	chr10:61356083-61356179	ENSG00000235140

Extended variants
information (count: 470 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:470 , 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	rs6481469	chr10:61354446-61354447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567087588	chr10:61354452-61354453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188793789	chr10:61354466-61354467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563372292	chr10:61354553-61354554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534485221	chr10:61354584-61354585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555731610	chr10:61354616-61354617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148392744	chr10:61354631-61354632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201273292	chr10:61354639-61354640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368725146	chr10:61354677-61354678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142466852	chr10:61354682-61354683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199529554	chr10:61354695-61354696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5785393	chr10:61354696-61354697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191657960	chr10:61354739-61354740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545014531	chr10:61354771-61354772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553732612	chr10:61354813-61354814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573080018	chr10:61354822-61354823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9919360	chr10:61354836-61354837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561772998	chr10:61354838-61354839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146870489	chr10:61354850-61354851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544375276	chr10:61354852-61354853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561495928	chr10:61354875-61354876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562593878	chr10:61354882-61354883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533044068	chr10:61354893-61354894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559343237	chr10:61354910-61354911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551424725	chr10:61354913-61354914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140706605	chr10:61354919-61354920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371742906	chr10:61354926-61354927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9919457	chr10:61355002-61355003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370195694	chr10:61355073-61355074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12217745	chr10:61355090-61355091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9919458	chr10:61355139-61355140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537075642	chr10:61355161-61355162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144440637	chr10:61355193-61355194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532534164	chr10:61355194-61355195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184380056	chr10:61355233-61355234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538723221	chr10:61355282-61355283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553794331	chr10:61355305-61355306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572394125	chr10:61355364-61355365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536211159	chr10:61355460-61355461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75779310	chr10:61355488-61355489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146605195	chr10:61355550-61355551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573825755	chr10:61355604-61355605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544452788	chr10:61355614-61355615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562650976	chr10:61355645-61355646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577859889	chr10:61355682-61355683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114742123	chr10:61355683-61355684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559954036	chr10:61355690-61355691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527286186	chr10:61355695-61355696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11305769	chr10:61355742-61355743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398046042	chr10:61355744-61355745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61353800-61354800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:61354800-61355000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr10:61355000-61356000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:61355000-61356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:61355000-61356000	Enhancers	Colon Smooth Muscle	Colon
6	chr10:61355200-61356000	Enhancers	Hela-S3	cervix
7	chr10:61355200-61356400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:61355400-61355600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:61355400-61355800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:61355600-61366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:61361000-61362000	Enhancers	Placenta	Placenta
12	chr10:61362000-61368600	Weak transcription	Placenta	Placenta
13	chr10:61365000-61365200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr10:61366000-61366600	Enhancers	Fetal Brain Male	brain
15	chr10:61366000-61367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:61366000-61367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:61366000-61367400	Enhancers	Brain Germinal Matrix	brain
18	chr10:61366200-61366600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:61366200-61366600	Enhancers	HSMMtube	muscle
20	chr10:61366200-61366600	Enhancers	NH-A	brain
21	chr10:61366200-61366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:61366200-61366800	Enhancers	Fetal Heart	heart
23	chr10:61366200-61367000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:61366200-61367000	Enhancers	Hela-S3	cervix
25	chr10:61366200-61369000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:61366400-61366600	Enhancers	Fetal Intestine Small	intestine
27	chr10:61366400-61366800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr10:61366400-61368400	Enhancers	Fetal Intestine Large	intestine
29	chr10:61366600-61367200	Weak transcription	Fetal Brain Male	brain
30	chr10:61366600-61367200	Weak transcription	Fetal Intestine Small	intestine
31	chr10:61366800-61367200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:61366800-61367800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr10:61367000-61368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:61367000-61368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:61367000-61368400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr10:61367000-61368400	Weak transcription	Hela-S3	cervix
37	chr10:61367200-61367400	Enhancers	Fetal Brain Male	brain
38	chr10:61367200-61368400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:61367200-61368400	Enhancers	Fetal Intestine Small	intestine
40	chr10:61367400-61368200	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:61367600-61367800	Weak transcription	Rectal Mucosa Donor 29	rectum

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