Variant report

Variant	nsv8357
Chromosome Location	chr8:64783560-64852075
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	chr8:64810767..64812883-chr8:64815060..64817336,2	K562	blood:
2	chr8:64810767..64812883-chr8:64815060..64817336,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP7B1-6	chr8:64808055-64808106	ENSG00000253554.1
2	lnc-RP11-32K4.2.1-5	chr8:64844542-64844957	ucscGeneNc_uc003xvc_2

Extended variants
information (count: 933 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189821594	chr8:64792258-64792259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139280342	chr8:64792312-64792313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562404388	chr8:64792339-64792340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532946338	chr8:64792341-64792342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535917363	chr8:64792374-64792375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551137176	chr8:64792386-64792387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566455315	chr8:64792395-64792396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527621155	chr8:64792432-64792433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549279194	chr8:64792440-64792441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116240146	chr8:64792458-64792459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538002089	chr8:64792459-64792460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111507437	chr8:64792484-64792485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569206323	chr8:64792492-64792493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539918027	chr8:64792507-64792508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555910419	chr8:64792522-64792523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143229001	chr8:64792585-64792586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76272404	chr8:64792646-64792647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373959897	chr8:64792696-64792697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368408778	chr8:64792702-64792703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147476438	chr8:64792734-64792735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185225440	chr8:64798802-64798803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574897787	chr8:64798906-64798907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62509543	chr8:64798937-64798938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs80322471	chr8:64798963-64798964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575891901	chr8:64798967-64798968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561404523	chr8:64799215-64799216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528884430	chr8:64799252-64799253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543347035	chr8:64799258-64799259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149354058	chr8:64799260-64799261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562495453	chr8:64799297-64799298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528710333	chr8:64799365-64799366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533104679	chr8:64799368-64799369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551674840	chr8:64799410-64799411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566688977	chr8:64799490-64799491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533936476	chr8:64799569-64799570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552037656	chr8:64799605-64799606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72649285	chr8:64799615-64799616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568510108	chr8:64799645-64799646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373327768	chr8:64799765-64799766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535937782	chr8:64799776-64799777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557108410	chr8:64799820-64799821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531076553	chr8:64799851-64799852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12547897	chr8:64799852-64799853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35368320	chr8:64799907-64799908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369058924	chr8:64799940-64799941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146021108	chr8:64800014-64800015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139973150	chr8:64800025-64800026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573112781	chr8:64800041-64800042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540382289	chr8:64800082-64800083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190055414	chr8:64800100-64800101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64792200-64793000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:64798800-64799000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:64799200-64800400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:64799600-64801400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:64799800-64801600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:64800000-64802000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:64800400-64800800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:64800400-64801600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:64800400-64801600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:64800400-64801800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:64800400-64802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:64800800-64801000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:64801000-64801400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:64801200-64801600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:64801400-64801600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:64801800-64803000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:64802000-64803200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:64802200-64806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:64803200-64803400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:64803200-64803400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:64803400-64803800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:64806800-64807000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr8:64807600-64808400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:64807800-64808200	Enhancers	Adipose Nuclei	Adipose
25	chr8:64808400-64815600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:64813000-64813600	Enhancers	Brain Germinal Matrix	brain
27	chr8:64815600-64816400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:64815800-64816200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:64816000-64816400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:64824000-64832000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:64832000-64832200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:64843000-64843400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:64849800-64850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:64850000-64851000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:64850600-64851400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:64850600-64851400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:64851000-64851400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:64851000-64852000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:64851000-64852000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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