Variant report

Variant	nsv611953
Chromosome Location	chr8:114732648-114817903
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	chr8:114816422..114818283-chr8:114819579..114821682,2	K562	blood:
2	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:

Extended variants
information (count: 880 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10481062	chr8:114739401-114739402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540352147	chr8:114739402-114739403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560249833	chr8:114739421-114739422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532364984	chr8:114739423-114739424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150373322	chr8:114739424-114739425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562546704	chr8:114739435-114739436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564363550	chr8:114739453-114739454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138111916	chr8:114739467-114739468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533462013	chr8:114739503-114739504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548481400	chr8:114739541-114739542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192894048	chr8:114739563-114739564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527509093	chr8:114739566-114739567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142948584	chr8:114739593-114739594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138274344	chr8:114739651-114739652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559900729	chr8:114739659-114739660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184962077	chr8:114739689-114739690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58188690	chr8:114739719-114739720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147462012	chr8:114739747-114739748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557294441	chr8:114739750-114739751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58178224	chr8:114739769-114739770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539473498	chr8:114746264-114746265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368906027	chr8:114746266-114746267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552586420	chr8:114746331-114746332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569580342	chr8:114746338-114746339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557497125	chr8:114746373-114746374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114179626	chr8:114746392-114746393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577897310	chr8:114746401-114746402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555111620	chr8:114746430-114746431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568338946	chr8:114746433-114746434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114622890	chr8:114746487-114746488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35014862	chr8:114746550-114746551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189085436	chr8:114746554-114746555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576820755	chr8:114746569-114746570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371794874	chr8:114746608-114746609	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374900260	chr8:114746614-114746615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577400322	chr8:114746636-114746637	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369129930	chr8:114746639-114746640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553566876	chr8:114746643-114746644	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576244718	chr8:114746660-114746661	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541772691	chr8:114746667-114746668	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs571869208	chr8:114746680-114746681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12155930	chr8:114746708-114746709	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527507839	chr8:114746747-114746748	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12155931	chr8:114746748-114746749	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142084788	chr8:114746763-114746764	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576049085	chr8:114746839-114746840	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181180717	chr8:114746963-114746964	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549701817	chr8:114747056-114747057	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543443150	chr8:114747072-114747073	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564708024	chr8:114747078-114747079	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Glioblastoma multiforme	21080181	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114739400-114739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:114746200-114746600	Enhancers	Dnd41	blood
3	chr8:114746400-114746600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:114746600-114746800	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:114746600-114746800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:114746600-114747400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:114746600-114747400	Flanking Active TSS	Dnd41	blood
8	chr8:114746800-114747200	Active TSS	Primary hematopoietic stem cells	blood
9	chr8:114746800-114747200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:114747400-114747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:114747400-114747600	Enhancers	Dnd41	blood
15	chr8:114747400-114749800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:114747400-114752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:114747400-114752800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:114747600-114752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:114749800-114753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:114750000-114751800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:114750200-114750600	Enhancers	HMEC	breast
22	chr8:114750200-114750800	Enhancers	NH-A	brain
23	chr8:114750200-114752400	Enhancers	HUVEC	blood vessel
24	chr8:114750400-114750600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:114750600-114751400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:114750600-114752600	Weak transcription	HMEC	breast
27	chr8:114750600-114753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:114750800-114752600	Weak transcription	NH-A	brain
29	chr8:114751400-114752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:114751800-114752200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:114752200-114752800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:114752200-114753400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:114752200-114753400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:114752400-114752600	Flanking Active TSS	HUVEC	blood vessel
35	chr8:114752600-114752800	Enhancers	HUVEC	blood vessel
36	chr8:114752600-114753400	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:114752600-114753400	Enhancers	HMEC	breast
38	chr8:114752600-114753400	Enhancers	NH-A	brain
39	chr8:114752800-114753000	Flanking Active TSS	HUVEC	blood vessel
40	chr8:114752800-114753200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:114752800-114753400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:114752800-114753600	Enhancers	Primary hematopoietic stem cells	blood
43	chr8:114753000-114753200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:114753000-114753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:114753000-114753400	Enhancers	HUVEC	blood vessel
46	chr8:114753200-114753400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:114753200-114753600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:114753200-114756200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:114753400-114753600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:114753400-114753600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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