Variant report

Variant	nsv891115
Chromosome Location	chr8:85643564-85694505
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	chr8:85637881..85639538-chr8:85676216..85677896,2	K562	blood:
2	chr20:47395381..47396938-chr8:85644635..85646246,2	MCF-7	breast:

Extended variants
information (count: 975 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536291842	chr8:85655208-85655209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554257136	chr8:85655271-85655272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143928210	chr8:85655325-85655326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545210872	chr8:85655346-85655347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570652769	chr8:85655357-85655358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146352726	chr8:85655360-85655361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375315229	chr8:85655385-85655386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544067751	chr8:85655402-85655403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552737019	chr8:85655457-85655458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28712801	chr8:85655459-85655460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139718271	chr8:85655550-85655551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144245962	chr8:85655566-85655567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559935729	chr8:85655580-85655581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531871607	chr8:85664809-85664810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553416288	chr8:85664815-85664816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528177319	chr8:85664835-85664836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs536043588	chr8:85664884-85664885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568270957	chr8:85664886-85664887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539831586	chr8:85664887-85664888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533828116	chr8:85664905-85664906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554127610	chr8:85664931-85664932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189990274	chr8:85664973-85664974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539445376	chr8:85665037-85665038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556255347	chr8:85665040-85665041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183339944	chr8:85665049-85665050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576047420	chr8:85665061-85665062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187413083	chr8:85665067-85665068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541956027	chr8:85665101-85665102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554843249	chr8:85665141-85665142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542069308	chr8:85665164-85665165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147679004	chr8:85665180-85665181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192308958	chr8:85665193-85665194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560416702	chr8:85665236-85665237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183299818	chr8:85665263-85665264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545782684	chr8:85665270-85665271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs140585724	chr8:85665373-85665374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374290412	chr8:85665386-85665387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74335133	chr8:85665438-85665439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563826811	chr8:85665459-85665460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548694445	chr8:85665468-85665469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561700767	chr8:85665520-85665521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527505184	chr8:85665521-85665522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547671328	chr8:85665529-85665530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570771657	chr8:85665556-85665557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs539784764	chr8:85665573-85665574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368681721	chr8:85665596-85665597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113107430	chr8:85665655-85665656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569663591	chr8:85665679-85665680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535186496	chr8:85665686-85665687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188744339	chr8:85665691-85665692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85655200-85655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:85664800-85665200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:85664800-85666000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:85668000-85672200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:85674200-85674400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:85674200-85674400	ZNF genes & repeats	Pancreas	Pancrea
7	chr8:85674400-85676400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:85676400-85676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:85676400-85677400	Enhancers	NH-A	brain
10	chr8:85676400-85678400	Enhancers	Primary T cells from cord blood	blood
11	chr8:85676600-85677200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:85676800-85677200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:85676800-85677200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:85676800-85677400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:85676800-85677400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:85676800-85677600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:85676800-85677600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:85676800-85677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:85676800-85677800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:85676800-85677800	Enhancers	Fetal Thymus	thymus
21	chr8:85677000-85677400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:85677200-85677400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:85677200-85677600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:85677400-85678000	Enhancers	Dnd41	blood
25	chr8:85677400-85687400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:85685800-85687000	Enhancers	HepG2	liver
27	chr8:85687400-85688600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:85688600-85700800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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