Variant report

Variant	nsv6147
Chromosome Location	chr8:34314029-34359124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:34347091..34349801-chr8:34353998..34355903,2	K562	blood:
2	chr8:34321069..34321569-chr8:87526445..87527042,3	MCF-7	breast:
3	chr8:34347091..34349801-chr8:34353998..34355903,2	K562	blood:
4	chr8:34319464..34321482-chr8:34323903..34326171,2	K562	blood:
5	chr8:34320589..34321589-chr8:87526521..87527178,2	HCT-116	colon:
6	chr8:34319464..34321482-chr8:34323903..34326171,2	K562	blood:

Variant related genes	Relation type
ENSG00000176623	chromatin interactions
ENSG00000085719	chromatin interactions

Extended variants
information (count: 847 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538410094	chr8:34314647-34314648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11283946	chr8:34314654-34314655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201643796	chr8:34314676-34314677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556838281	chr8:34314716-34314717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190061213	chr8:34314740-34314741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77314375	chr8:34314775-34314776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553921162	chr8:34314789-34314790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572085684	chr8:34314843-34314844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542745986	chr8:34314847-34314848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550230250	chr8:34314849-34314850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56355533	chr8:34314868-34314869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182692438	chr8:34314872-34314873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67908341	chr8:34314898-34314899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs28521494	chr8:34314956-34314957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533114803	chr8:34315006-34315007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13264902	chr8:34315034-34315035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539678043	chr8:34315070-34315071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566504106	chr8:34315094-34315095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13272790	chr8:34315127-34315128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140752212	chr8:34315138-34315139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567344716	chr8:34315149-34315150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149668720	chr8:34315185-34315186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539188205	chr8:34316025-34316026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190824448	chr8:34316063-34316064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546449272	chr8:34316071-34316072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565985772	chr8:34316072-34316073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564750512	chr8:34316112-34316113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536252782	chr8:34316133-34316134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75715720	chr8:34316163-34316164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532272142	chr8:34317421-34317422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74427054	chr8:34317437-34317438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4739565	chr8:34317465-34317466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4739566	chr8:34317489-34317490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548489343	chr8:34317492-34317493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570303122	chr8:34317521-34317522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548566026	chr8:34317578-34317579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558339395	chr8:34320636-34320637	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543720007	chr8:34320637-34320638	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539183327	chr8:34320700-34320701	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140857579	chr8:34320704-34320705	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570270348	chr8:34320715-34320716	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534362133	chr8:34320753-34320754	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537703237	chr8:34320754-34320755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540068529	chr8:34320795-34320796	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556098056	chr8:34320843-34320844	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7823416	chr8:34321000-34321001	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574302391	chr8:34321026-34321027	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150151759	chr8:34321068-34321069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145564345	chr8:34321100-34321101	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs190933567	chr8:34321143-34321144	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34314600-34314800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr8:34314800-34315200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:34316000-34316200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:34317400-34317600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:34325600-34327200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:34338600-34340200	Enhancers	Fetal Kidney	kidney
7	chr8:34340200-34343800	Weak transcription	Fetal Kidney	kidney
8	chr8:34342800-34343800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:34342800-34344600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:34342800-34345000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:34343000-34344800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:34343000-34345000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:34343200-34343800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:34343800-34345800	Enhancers	Fetal Kidney	kidney
15	chr8:34344000-34345800	Enhancers	Brain Germinal Matrix	brain
16	chr8:34344600-34345800	Enhancers	Fetal Brain Female	brain
17	chr8:34345000-34345600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:34345800-34351000	Weak transcription	Fetal Kidney	kidney
19	chr8:34347600-34347800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:34347800-34350000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:34350600-34351400	Enhancers	Fetal Heart	heart
22	chr8:34351000-34351800	Enhancers	Fetal Kidney	kidney
23	chr8:34351400-34356200	Weak transcription	Fetal Heart	heart
24	chr8:34351800-34353000	Weak transcription	Fetal Kidney	kidney
25	chr8:34353200-34353400	Enhancers	Fetal Kidney	kidney
26	chr8:34356200-34356600	Enhancers	Fetal Heart	heart

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