Variant report

Variant	nsv1020706
Chromosome Location	chr8:111432349-111467331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111426432..111429583-chr8:111430116..111432569,3	MCF-7	breast:
2	chr8:111444766..111447245-chr8:111451075..111453827,2	K562	blood:
3	chr8:111426582..111428380-chr8:111435676..111438119,2	K562	blood:
4	chr8:111444766..111447245-chr8:111451075..111453827,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549066634	chr8:111459825-111459826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35577765	chr8:111459858-111459859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565623970	chr8:111459885-111459886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567508248	chr8:111459895-111459896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368259145	chr8:111459921-111459922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528117653	chr8:111459958-111459959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551087669	chr8:111459989-111459990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537927947	chr8:111460601-111460602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542823039	chr8:111460671-111460672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559446979	chr8:111460672-111460673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528164601	chr8:111460678-111460679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182405427	chr8:111460684-111460685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373940187	chr8:111460752-111460753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56196536	chr8:111460762-111460763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190304281	chr8:111460776-111460777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150090240	chr8:111460779-111460780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192029531	chr8:111464334-111464335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540982605	chr8:111464370-111464371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374081711	chr8:111464371-111464372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183925719	chr8:111464400-111464401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77356729	chr8:111464412-111464413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs66481762	chr8:111464432-111464433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529936101	chr8:111464472-111464473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533837970	chr8:111464482-111464483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553510765	chr8:111464490-111464491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551269082	chr8:111464525-111464526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576739939	chr8:111464526-111464527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539424724	chr8:111464534-111464535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556922714	chr8:111464540-111464541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79211303	chr8:111464547-111464548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542482929	chr8:111464554-111464555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562266862	chr8:111464556-111464557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149979476	chr8:111464581-111464582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541484917	chr8:111464594-111464595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564337129	chr8:111464633-111464634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74565022	chr8:111464674-111464675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566462669	chr8:111464681-111464682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187630957	chr8:111464682-111464683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562484961	chr8:111464689-111464690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531462788	chr8:111464695-111464696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189666150	chr8:111464755-111464756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568219566	chr8:111464770-111464771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533667491	chr8:111464835-111464836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547503556	chr8:111464859-111464860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182287039	chr8:111464906-111464907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539485779	chr8:111464909-111464910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76271088	chr8:111464912-111464913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549693665	chr8:111464935-111464936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576815991	chr8:111464955-111464956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533738374	chr8:111464973-111464974	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
Testicular cancer	18059402	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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111459800-111460000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:111460600-111460800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:111464200-111464600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:111464200-111464800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:111464200-111464800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:111464200-111464800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:111464600-111465400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:111465400-111466600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:111466600-111467200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:111466800-111467200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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