Variant report

Variant	nsv611375
Chromosome Location	chr8:54122620-54130075
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	chr8:54121078..54124068-chr8:54126518..54128472,2	K562	blood:
2	chr8:54121078..54124068-chr8:54126518..54128472,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPBWR1-1	chr8:54128859-54128983	ENSG00000254687.1
2	lnc-NPBWR1-1	chr8:54128859-54129064	ENSG00000254687.1

Extended variants
information (count: 222 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577932399	chr8:54125233-54125234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567203298	chr8:54125246-54125247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191858604	chr8:54125269-54125270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557442699	chr8:54125293-54125294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182524084	chr8:54125294-54125295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574230095	chr8:54125336-54125337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188780017	chr8:54125339-54125340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35572591	chr8:54125344-54125345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117368889	chr8:54125355-54125356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546584864	chr8:54125358-54125359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192875720	chr8:54125388-54125389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117908069	chr8:54125401-54125402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545654880	chr8:54125412-54125413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543216684	chr8:54125472-54125473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373848885	chr8:54125559-54125560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185161902	chr8:54125598-54125599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147448057	chr8:54125613-54125614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543019512	chr8:54125631-54125632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190387231	chr8:54125672-54125673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6990826	chr8:54125673-54125674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139881457	chr8:54125674-54125675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539367162	chr8:54125708-54125709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565897760	chr8:54125709-54125710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559288439	chr8:54125714-54125715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75273631	chr8:54125765-54125766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551608719	chr8:54125803-54125804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73601364	chr8:54125832-54125833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192374073	chr8:54125851-54125852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183929875	chr8:54125860-54125861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557430235	chr8:54125861-54125862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58882388	chr8:54125920-54125921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115696815	chr8:54125934-54125935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188273223	chr8:54125937-54125938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142951178	chr8:54125945-54125946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2114103	chr8:54125974-54125975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544943103	chr8:54126014-54126015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112348335	chr8:54126032-54126033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564796706	chr8:54126033-54126034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543007389	chr8:54126056-54126057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181365655	chr8:54126074-54126075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73601368	chr8:54126075-54126076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569817608	chr8:54126088-54126089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150704235	chr8:54126103-54126104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139869980	chr8:54126131-54126132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528240541	chr8:54126176-54126177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185640096	chr8:54126223-54126224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571554881	chr8:54126303-54126304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530859189	chr8:54126314-54126315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550473727	chr8:54126357-54126358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76124919	chr8:54126385-54126386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	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
Salivary gland tumor	18059337	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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54125200-54126800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:54126600-54128200	Enhancers	Placenta	Placenta
3	chr8:54126800-54127600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:54127000-54127800	ZNF genes & repeats	Spleen	Spleen
5	chr8:54127600-54136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:54127800-54128000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr8:54127800-54129400	Weak transcription	Spleen	Spleen
8	chr8:54128800-54129200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:54129000-54129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:54129000-54129200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:54129200-54130200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:54129200-54131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:54129600-54131000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:54130000-54130200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:54130000-54130400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:54130000-54132000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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