Variant report

Variant	nsv1027264
Chromosome Location	chr8:43561013-43824036
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	chr8:43092429..43093269-chr8:43823893..43824414,2	MCF-7	breast:

Extended variants
information (count: 18179 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:18179 , 50 per page) page: 1 2 3 4 5 6 7 ... 364

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116467858	chr8:43565803-43565804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185141247	chr8:43565818-43565819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552881346	chr8:43565843-43565844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565721375	chr8:43565847-43565848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs543429186	chr8:43565855-43565856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575792398	chr8:43565933-43565934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs78111639	chr8:43566013-43566014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188982938	chr8:43566014-43566015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78843915	chr8:43566030-43566031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568217095	chr8:43566052-43566053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537208074	chr8:43566104-43566105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72635484	chr8:43566107-43566108	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577012421	chr8:43566112-43566113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184034453	chr8:43566114-43566115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188671196	chr8:43566115-43566116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78854442	chr8:43566147-43566148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572844435	chr8:43566152-43566153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541870645	chr8:43566165-43566166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561721273	chr8:43566191-43566192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530531374	chr8:43566204-43566205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs180774983	chr8:43566223-43566224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563728792	chr8:43566229-43566230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370073094	chr8:43566231-43566232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201067497	chr8:43566238-43566239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532768795	chr8:43566245-43566246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373645322	chr8:43566247-43566248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560634837	chr8:43566275-43566276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552560080	chr8:43566291-43566292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs8185880	chr8:43566298-43566299	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116151170	chr8:43566301-43566302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200569792	chr8:43566302-43566303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568154839	chr8:43566307-43566308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs537143829	chr8:43566313-43566314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562960266	chr8:43566321-43566322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375190855	chr8:43566326-43566327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557454355	chr8:43566335-43566336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139281304	chr8:43566349-43566350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539638882	chr8:43566353-43566354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553277792	chr8:43566354-43566355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144062147	chr8:43566375-43566376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542191657	chr8:43566381-43566382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541807192	chr8:43566414-43566415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs8185882	chr8:43566415-43566416	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528326510	chr8:43566450-43566451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575242914	chr8:43566470-43566471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544891816	chr8:43566476-43566477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543949958	chr8:43566479-43566480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548906958	chr8:43566493-43566494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186259295	chr8:43566497-43566498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190347644	chr8:43566522-43566523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Seminomas	18059402	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
Lung cancer	18438408	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
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	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
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43565800-43568800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr8:43567000-43569000	ZNF genes & repeats	Psoas Muscle	Psoas
3	chr8:43567200-43568800	ZNF genes & repeats	Liver	Liver
4	chr8:43567400-43569800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:43571800-43573600	ZNF genes & repeats	Liver	Liver
6	chr8:43572200-43574600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:43572200-43576600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr8:43575000-43579400	ZNF genes & repeats	Liver	Liver
9	chr8:43575400-43578400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:43575800-43576400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr8:43582200-43594800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:43582800-43584000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr8:43584800-43591400	ZNF genes & repeats	Liver	Liver
14	chr8:43585600-43588000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr8:43586600-43589600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr8:43589200-43592000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr8:43591000-43592600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr8:43591400-43593400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr8:43591800-43593800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr8:43592000-43594600	ZNF genes & repeats	Liver	Liver
21	chr8:43595800-43602200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:43603600-43605600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:43604600-43607200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:43604800-43605400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr8:43608800-43616200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:43615200-43620200	ZNF genes & repeats	Liver	Liver
27	chr8:43618000-43619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:43618200-43627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr8:43620400-43620800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:43620800-43621400	ZNF genes & repeats	Liver	Liver
31	chr8:43623000-43623600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr8:43624400-43626000	ZNF genes & repeats	Liver	Liver
33	chr8:43624800-43632200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:43628200-43637000	ZNF genes & repeats	Liver	Liver
35	chr8:43629800-43655600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:43631000-43633200	Active TSS	Fetal Heart	heart
37	chr8:43633400-43633800	Weak transcription	Fetal Heart	heart
38	chr8:43634600-43635800	Active TSS	Fetal Heart	heart
39	chr8:43635000-43636000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr8:43635200-43635600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr8:43637800-43639000	ZNF genes & repeats	Liver	Liver
42	chr8:43638000-43646800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr8:43641400-43654200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr8:43647600-43649000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr8:43649400-43651000	ZNF genes & repeats	Liver	Liver
46	chr8:43649400-43654400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr8:43650400-43652400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr8:43658000-43659000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr8:43659200-43660800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr8:43659400-43662000	ZNF genes & repeats	Adipose Nuclei	Adipose

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