Variant report

Variant	nsv467291
Chromosome Location	chr10:61358382-61378404
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	chr10:61370889-61371006	ENSG00000235140

Extended variants
information (count: 767 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10509109	chr10:61358382-61358383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547948672	chr10:61358386-61358387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72808406	chr10:61358426-61358427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113270269	chr10:61358460-61358461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145936220	chr10:61358507-61358508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576771410	chr10:61358624-61358625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577437931	chr10:61358685-61358686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7916210	chr10:61358740-61358741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185970438	chr10:61358747-61358748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553410549	chr10:61358753-61358754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139782980	chr10:61358866-61358867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542474858	chr10:61358868-61358869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375500618	chr10:61358872-61358873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370121458	chr10:61358887-61358888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563847751	chr10:61358914-61358915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191215213	chr10:61358929-61358930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144454939	chr10:61358950-61358951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146609040	chr10:61358968-61358969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148760954	chr10:61359015-61359016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201328976	chr10:61359038-61359039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398013675	chr10:61359042-61359043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546946669	chr10:61359097-61359098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142361658	chr10:61359119-61359120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74873112	chr10:61359155-61359156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537476376	chr10:61359195-61359196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373760279	chr10:61359240-61359241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151281620	chr10:61359241-61359242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140490003	chr10:61359324-61359325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182546873	chr10:61359410-61359411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534335798	chr10:61359470-61359471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369304894	chr10:61359491-61359492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568684901	chr10:61359561-61359562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536149838	chr10:61359601-61359602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557632109	chr10:61359611-61359612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10509110	chr10:61359648-61359649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546374533	chr10:61359652-61359653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560628795	chr10:61359669-61359670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557994486	chr10:61359683-61359684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573256369	chr10:61359688-61359689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147046900	chr10:61359695-61359696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527820316	chr10:61359719-61359720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562092828	chr10:61359746-61359747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188039310	chr10:61359749-61359750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116208344	chr10:61359757-61359758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199965172	chr10:61359762-61359763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71006272	chr10:61359789-61359790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201200408	chr10:61359790-61359791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546754414	chr10:61359805-61359806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72808409	chr10:61359832-61359833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540734960	chr10:61359887-61359888	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61355600-61366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:61361000-61362000	Enhancers	Placenta	Placenta
3	chr10:61362000-61368600	Weak transcription	Placenta	Placenta
4	chr10:61365000-61365200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr10:61366000-61366600	Enhancers	Fetal Brain Male	brain
6	chr10:61366000-61367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:61366000-61367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:61366000-61367400	Enhancers	Brain Germinal Matrix	brain
9	chr10:61366200-61366600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:61366200-61366600	Enhancers	HSMMtube	muscle
11	chr10:61366200-61366600	Enhancers	NH-A	brain
12	chr10:61366200-61366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:61366200-61366800	Enhancers	Fetal Heart	heart
14	chr10:61366200-61367000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:61366200-61367000	Enhancers	Hela-S3	cervix
16	chr10:61366200-61369000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:61366400-61366600	Enhancers	Fetal Intestine Small	intestine
18	chr10:61366400-61366800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr10:61366400-61368400	Enhancers	Fetal Intestine Large	intestine
20	chr10:61366600-61367200	Weak transcription	Fetal Brain Male	brain
21	chr10:61366600-61367200	Weak transcription	Fetal Intestine Small	intestine
22	chr10:61366800-61367200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:61366800-61367800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:61367000-61368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:61367000-61368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:61367000-61368400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr10:61367000-61368400	Weak transcription	Hela-S3	cervix
28	chr10:61367200-61367400	Enhancers	Fetal Brain Male	brain
29	chr10:61367200-61368400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:61367200-61368400	Enhancers	Fetal Intestine Small	intestine
31	chr10:61367400-61368200	Enhancers	Duodenum Mucosa	Duodenum
32	chr10:61367600-61367800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:61367800-61368000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr10:61367800-61368800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr10:61368000-61368400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr10:61368000-61369000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:61368200-61368400	Enhancers	Rectal Smooth Muscle	rectum
38	chr10:61368400-61368600	Enhancers	Hela-S3	cervix
39	chr10:61368400-61368800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:61368400-61368800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:61368400-61369800	Enhancers	Colon Smooth Muscle	Colon
42	chr10:61368600-61369000	Flanking Active TSS	Hela-S3	cervix
43	chr10:61368600-61369200	Enhancers	Placenta	Placenta
44	chr10:61368800-61373000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:61369000-61369200	Enhancers	Hela-S3	cervix
46	chr10:61369000-61369400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:61369000-61373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:61369200-61369600	Weak transcription	Hela-S3	cervix
49	chr10:61369200-61370600	Weak transcription	Placenta	Placenta
50	chr10:61369400-61370000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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