Variant report

Variant	nsv933429
Chromosome Location	chr8:118798533-118812170
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	chr8:118783908..118785429-chr8:118806603..118808878,2	K562	blood:
2	chr4:10173856..10175564-chr8:118809117..118811670,2	MCF-7	breast:

Extended variants
information (count: 537 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140729179	chr8:118798554-118798555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116797170	chr8:118798555-118798556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564346168	chr8:118798564-118798565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370534665	chr8:118798603-118798604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10955829	chr8:118798604-118798605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4514007	chr8:118798624-118798625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34402308	chr8:118798722-118798723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143474232	chr8:118798788-118798789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57638650	chr8:118798791-118798792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535615022	chr8:118798802-118798803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146771047	chr8:118798840-118798841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201491658	chr8:118798841-118798842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199814918	chr8:118798843-118798844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67173247	chr8:118798863-118798864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144603480	chr8:118798905-118798906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539647395	chr8:118798907-118798908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188234334	chr8:118798921-118798922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114801227	chr8:118798923-118798924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180993285	chr8:118798946-118798947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116491669	chr8:118799037-118799038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13268974	chr8:118799056-118799057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552391543	chr8:118799081-118799082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28536582	chr8:118799089-118799090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184779428	chr8:118799140-118799141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189645584	chr8:118799177-118799178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10955830	chr8:118799199-118799200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181636516	chr8:118799214-118799215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559591935	chr8:118799240-118799241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201747484	chr8:118799252-118799253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28507251	chr8:118799281-118799282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111557170	chr8:118799301-118799302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200464545	chr8:118799306-118799307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561687718	chr8:118799344-118799345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201639124	chr8:118799353-118799354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372673986	chr8:118799389-118799390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374904262	chr8:118799394-118799395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28735996	chr8:118799422-118799423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185884942	chr8:118799430-118799431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36153048	chr8:118799435-118799436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372902547	chr8:118799445-118799446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190653374	chr8:118799481-118799482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568969310	chr8:118799521-118799522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376112685	chr8:118799582-118799583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533100008	chr8:118799591-118799592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551586932	chr8:118799654-118799655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566701303	chr8:118799688-118799689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534066915	chr8:118799699-118799700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372858125	chr8:118799711-118799712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181827899	chr8:118799765-118799766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530955101	chr8:118799770-118799771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118751400-118805400	Weak transcription	NHLF	lung
2	chr8:118777800-118802200	Weak transcription	NHDF-Ad	bronchial
3	chr8:118779800-118801200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:118781400-118801200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:118784000-118804200	Weak transcription	NH-A	brain
6	chr8:118784200-118801400	Weak transcription	Osteobl	bone
7	chr8:118784600-118801600	Weak transcription	Aorta	Aorta
8	chr8:118785400-118800800	Weak transcription	HSMM	muscle
9	chr8:118787200-118805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:118787400-118801200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:118789000-118800600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:118789800-118800400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:118790200-118801000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:118791000-118801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:118791200-118798600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:118795800-118805600	Weak transcription	Liver	Liver
17	chr8:118796000-118804200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:118799600-118805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:118799600-118806400	Weak transcription	HSMMtube	muscle
20	chr8:118799600-118809000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:118800000-118805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118800000-118806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:118800000-118816400	Weak transcription	Brain Angular Gyrus	brain
24	chr8:118800200-118815800	Weak transcription	Esophagus	oesophagus
25	chr8:118800400-118803400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:118800600-118801200	Weak transcription	Ovary	ovary
27	chr8:118800600-118805800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:118800600-118822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:118800800-118802800	Strong transcription	HSMM	muscle
30	chr8:118801000-118801200	Weak transcription	Fetal Brain Male	brain
31	chr8:118801000-118801400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:118801000-118801400	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr8:118801000-118802000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:118801000-118803200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:118801200-118801400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:118801200-118801600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:118801200-118801600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr8:118801200-118801600	ZNF genes & repeats	Fetal Brain Male	brain
40	chr8:118801200-118801600	ZNF genes & repeats	Ovary	ovary
41	chr8:118801200-118803400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:118801200-118806200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:118801400-118801600	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:118801400-118801800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:118801400-118801800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:118801400-118805200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:118801400-118808200	Strong transcription	Osteobl	bone
48	chr8:118801400-118811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:118801600-118801800	ZNF genes & repeats	Aorta	Aorta
50	chr8:118801600-118802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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