Variant report

Variant	nsv1025482
Chromosome Location	chr8:116051374-116149507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50127105..50127815-chr8:116138925..116139857,2	MCF-7	breast:
2	chr8:115857407..115858047-chr8:116088791..116089518,2	MCF-7	breast:
3	chr8:116105700..116107670-chr8:116108228..116110232,2	MCF-7	breast:
4	chr8:115801565..115802207-chr8:116111087..116111614,2	MCF-7	breast:
5	chr8:116127927..116129475-chr8:116129633..116132436,2	MCF-7	breast:
6	chr8:116139787..116140555-chr8:116421917..116422745,2	MCF-7	breast:
7	chr8:116122466..116125390-chr8:116126954..116128703,2	MCF-7	breast:
8	chr20:52437356..52438234-chr8:116087383..116088293,2	MCF-7	breast:
9	chr8:116118717..116120924-chr8:116130705..116133037,2	MCF-7	breast:
10	chr15:85561506..85562271-chr8:116131183..116131729,2	MCF-7	breast:
11	chr8:116146174..116148539-chr8:116152246..116154222,2	MCF-7	breast:
12	chr8:116139667..116140765-chr8:116286061..116287283,6	MCF-7	breast:
13	chr8:115858302..115859090-chr8:116110965..116111686,2	MCF-7	breast:
14	chr8:116118717..116120924-chr8:116130705..116133037,2	MCF-7	breast:
15	chr8:116139843..116140617-chr8:116286036..116286953,6	MCF-7	breast:
16	chr8:115858454..115859582-chr8:116088622..116089592,9	MCF-7	breast:
17	chr8:116105700..116107670-chr8:116108228..116110232,2	MCF-7	breast:
18	chr8:116037155..116040113-chr8:116065059..116067107,2	MCF-7	breast:
19	chr8:115858972..115859777-chr8:116088522..116089323,3	MCF-7	breast:
20	chr8:116127927..116129475-chr8:116129633..116132436,2	MCF-7	breast:
21	chr8:115858350..115859560-chr8:116127592..116129068,6	MCF-7	breast:
22	chr15:50843592..50846048-chr8:116105548..116107246,2	MCF-7	breast:
23	chr8:115858587..115859263-chr8:116111343..116112027,3	MCF-7	breast:
24	chr8:116128224..116130315-chr8:116157752..116160584,2	K562	blood:
25	chr8:116122466..116125390-chr8:116126954..116128703,2	MCF-7	breast:
26	chr8:115858790..115859787-chr8:116127493..116128052,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000003756	chromatin interactions

Extended variants
information (count: 2305 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2305 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528352846	chr8:116060015-116060016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79123666	chr8:116060021-116060022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144304101	chr8:116060042-116060043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190744434	chr8:116060069-116060070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550752779	chr8:116060096-116060097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569335012	chr8:116060106-116060107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182925394	chr8:116060143-116060144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1494746	chr8:116060210-116060211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80183799	chr8:116060221-116060222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61631410	chr8:116060246-116060247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77224600	chr8:116060257-116060258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141549048	chr8:116060278-116060279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117965440	chr8:116060306-116060307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556526913	chr8:116060323-116060324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574985612	chr8:116060325-116060326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62513385	chr8:116060326-116060327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563713779	chr8:116060351-116060352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528095979	chr8:116060538-116060539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540101165	chr8:116060546-116060547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370174066	chr8:116060551-116060552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185751165	chr8:116060589-116060590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75765357	chr8:116060598-116060599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138341673	chr8:116060599-116060600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559912786	chr8:116061871-116061872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114191890	chr8:116061900-116061901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527769591	chr8:116061936-116061937	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531645477	chr8:116061937-116061938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189863994	chr8:116061961-116061962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561304500	chr8:116061982-116061983	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs114825930	chr8:116062043-116062044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116111552	chr8:116062052-116062053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568137741	chr8:116062077-116062078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141087042	chr8:116062092-116062093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs192800383	chr8:116062100-116062101	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532710237	chr8:116062110-116062111	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12548607	chr8:116062127-116062128	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565963252	chr8:116062155-116062156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533858007	chr8:116062158-116062159	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77866453	chr8:116062198-116062199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76839965	chr8:116062210-116062211	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537446873	chr8:116062212-116062213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76630574	chr8:116062215-116062216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184846467	chr8:116062284-116062285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545355968	chr8:116062301-116062302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553940385	chr8:116062346-116062347	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189304526	chr8:116062395-116062396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs572166654	chr8:116062396-116062397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372099345	chr8:116062400-116062401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186504668	chr8:116062602-116062603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532648028	chr8:116062663-116062664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116060000-116060400	Enhancers	Rectal Smooth Muscle	rectum
2	chr8:116060000-116060600	Enhancers	Colon Smooth Muscle	Colon
3	chr8:116061800-116062400	Active TSS	Right Atrium	heart
4	chr8:116062600-116067400	Weak transcription	HSMMtube	muscle
5	chr8:116065000-116067400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:116067000-116067400	Enhancers	NHLF	lung
7	chr8:116067000-116068000	Enhancers	NHDF-Ad	bronchial
8	chr8:116067000-116069400	Enhancers	HMEC	breast
9	chr8:116067000-116070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:116067200-116067600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:116067200-116068000	Enhancers	Osteobl	bone
12	chr8:116067200-116068400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:116067200-116068800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:116067200-116068800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:116067400-116067600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:116067400-116067600	Flanking Active TSS	NHLF	lung
17	chr8:116067400-116068000	Enhancers	NH-A	brain
18	chr8:116067400-116069000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:116067400-116069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:116067400-116069400	Enhancers	HSMMtube	muscle
21	chr8:116067400-116070800	Enhancers	HSMM	muscle
22	chr8:116067600-116068000	Enhancers	NHLF	lung
23	chr8:116067600-116069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:116067600-116069400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:116067800-116068000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:116067800-116068800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:116068000-116068200	Flanking Active TSS	NH-A	brain
28	chr8:116068000-116068200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr8:116068000-116068200	Flanking Active TSS	NHLF	lung
30	chr8:116068000-116068400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:116068000-116068600	Flanking Active TSS	Osteobl	bone
32	chr8:116068000-116069400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:116068000-116069400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:116068000-116069400	Enhancers	Hela-S3	cervix
35	chr8:116068000-116070000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:116068200-116068800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:116068200-116068800	Active TSS	NH-A	brain
38	chr8:116068200-116068800	Active TSS	NHDF-Ad	bronchial
39	chr8:116068200-116068800	Active TSS	NHLF	lung
40	chr8:116068400-116068600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:116068400-116068800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:116068600-116069000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:116068600-116069000	Enhancers	Osteobl	bone
44	chr8:116068800-116069200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:116068800-116069200	Flanking Active TSS	NH-A	brain
46	chr8:116068800-116069200	Flanking Active TSS	NHLF	lung
47	chr8:116068800-116069400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:116068800-116069400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:116068800-116069400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr8:116068800-116070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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