Variant report

Variant	nsv1018024
Chromosome Location	chr8:91749316-91786987
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:74)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:91770698..91772892-chr8:91772982..91776234,4	MCF-7	breast:
2	chr8:91769675..91771351-chr8:91958507..91960035,2	MCF-7	breast:
3	chr8:91769046..91772001-chr8:91960285..91962776,4	MCF-7	breast:
4	chr8:91766098..91768258-chr8:91780637..91782551,2	MCF-7	breast:
5	chr8:91709152..91711337-chr8:91764689..91766371,2	MCF-7	breast:
6	chr8:91768271..91770851-chr8:91798909..91800794,2	MCF-7	breast:
7	chr8:91656743..91659535-chr8:91768664..91770530,4	MCF-7	breast:
8	chr8:91762857..91766404-chr8:91774320..91778634,4	MCF-7	breast:
9	chr8:91752703..91756658-chr8:91764541..91767836,4	MCF-7	breast:
10	chr8:91653113..91664432-chr8:91761813..91773315,39	MCF-7	breast:
11	chr8:91703809..91704698-chr8:91766212..91767104,5	MCF-7	breast:
12	chr8:91761177..91764126-chr8:91764470..91768423,3	MCF-7	breast:
13	chr8:91781884..91783828-chr8:91937169..91939199,2	MCF-7	breast:
14	chr8:91782799..91783568-chr8:91899741..91900410,3	MCF-7	breast:
15	chr8:91770811..91771347-chr8:91929515..91930369,2	MCF-7	breast:
16	chr8:91687150..91691411-chr8:91769036..91770944,3	MCF-7	breast:
17	chr8:91763941..91769111-chr8:91924081..91929908,10	MCF-7	breast:
18	chr8:91770614..91773543-chr8:91803892..91805472,2	MCF-7	breast:
19	chr8:91770698..91772892-chr8:91772982..91776234,4	MCF-7	breast:
20	chr8:91764211..91766623-chr8:91897125..91900708,3	MCF-7	breast:
21	chr8:91782138..91786093-chr8:91924944..91927174,4	MCF-7	breast:
22	chr8:91770455..91771163-chr8:91959111..91959792,2	MCF-7	breast:
23	chr8:91781882..91784742-chr8:91787423..91790855,3	K562	blood:
24	chr8:91782953..91784841-chr8:91898375..91901413,3	MCF-7	breast:
25	chr8:91766098..91768258-chr8:91780637..91782551,2	MCF-7	breast:
26	chr8:91780366..91783259-chr8:91839606..91841558,2	MCF-7	breast:
27	chr8:91704726..91706793-chr8:91760204..91762419,3	MCF-7	breast:
28	chr8:91705203..91706049-chr8:91766185..91766752,2	MCF-7	breast:
29	chr8:91781643..91786719-chr8:91923582..91929024,8	MCF-7	breast:
30	chr8:91649928..91652200-chr8:91774063..91776914,2	K562	blood:
31	chr8:91769455..91772114-chr8:91781079..91783197,2	MCF-7	breast:
32	chr8:91770190..91771184-chr8:91960249..91961190,6	MCF-7	breast:
33	chr8:91780302..91782332-chr8:91899884..91901974,2	MCF-7	breast:
34	chr8:91774716..91776551-chr8:91899824..91902199,2	MCF-7	breast:
35	chr8:91754436..91757120-chr8:91761325..91764066,2	MCF-7	breast:
36	chr8:91763135..91765555-chr8:91908912..91910844,2	MCF-7	breast:
37	chr8:91770570..91771529-chr8:91929859..91930454,2	MCF-7	breast:
38	chr8:91655439..91662758-chr8:91763448..91768300,9	MCF-7	breast:
39	chr8:91761177..91764126-chr8:91764470..91768423,3	MCF-7	breast:
40	chr8:91765280..91766814-chr8:91931264..91933251,2	MCF-7	breast:
41	chr8:91702608..91708143-chr8:91763380..91770972,10	MCF-7	breast:
42	chr8:91766891..91772243-chr8:91870452..91873445,4	MCF-7	breast:
43	chr8:91764454..91766767-chr8:91767508..91769487,2	MCF-7	breast:
44	chr8:91703840..91704698-chr8:91766212..91767104,2	MCF-7	breast:
45	chr8:91659247..91662348-chr8:91780886..91783855,3	MCF-7	breast:
46	chr8:91777365..91779211-chr8:91782601..91784539,2	MCF-7	breast:
47	chr8:91762857..91766404-chr8:91774320..91778634,4	MCF-7	breast:
48	chr8:91656878..91661318-chr8:91773950..91778359,7	MCF-7	breast:
49	chr8:91754436..91757120-chr8:91761325..91764066,2	MCF-7	breast:
50	chr8:91736004..91738134-chr8:91769334..91770895,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180694	chromatin interactions
ENSG00000155100	chromatin interactions
ENSG00000123119	chromatin interactions
ENSG00000253738	chromatin interactions
ENSG00000104325	chromatin interactions
ENSG00000254251	chromatin interactions
ENSG00000246792	chromatin interactions

Extended variants
information (count: 1009 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1009 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557701808	chr8:91752159-91752160	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569603820	chr8:91752171-91752172	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539622099	chr8:91752198-91752199	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149106546	chr8:91752214-91752215	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3913687	chr8:91752218-91752219	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192247364	chr8:91752225-91752226	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144921793	chr8:91752231-91752232	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185134288	chr8:91752260-91752261	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs4089182	chr8:91752264-91752265	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562421416	chr8:91752285-91752286	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533105161	chr8:91752286-91752287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544867343	chr8:91752288-91752289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560306099	chr8:91752307-91752308	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146773898	chr8:91752342-91752343	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs193010678	chr8:91752346-91752347	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs75719814	chr8:91752379-91752380	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184516801	chr8:91752402-91752403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529288256	chr8:91752492-91752493	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569745529	chr8:91752504-91752505	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12675312	chr8:91752526-91752527	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551021285	chr8:91752594-91752595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4368938	chr8:91752599-91752600	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540163427	chr8:91752608-91752609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs551639814	chr8:91752632-91752633	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567078662	chr8:91752667-91752668	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12548862	chr8:91752708-91752709	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188149754	chr8:91752719-91752720	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573431567	chr8:91752739-91752740	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537446300	chr8:91752766-91752767	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555780986	chr8:91752793-91752794	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577475839	chr8:91752870-91752871	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545291029	chr8:91752877-91752878	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs140511007	chr8:91752885-91752886	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs73307288	chr8:91752887-91752888	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117417927	chr8:91752912-91752913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115264009	chr8:91752917-91752918	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529453326	chr8:91752948-91752949	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550982398	chr8:91752984-91752985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562878028	chr8:91752998-91752999	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77565946	chr8:91753012-91753013	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552069566	chr8:91753025-91753026	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567087827	chr8:91753031-91753032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534382962	chr8:91753034-91753035	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181347529	chr8:91753049-91753050	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377348374	chr8:91753067-91753068	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs184274553	chr8:91753075-91753076	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1827667	chr8:91753168-91753169	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577588282	chr8:91753171-91753172	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552659985	chr8:91753173-91753174	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374435329	chr8:91753305-91753306	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91761000-91761200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:91761800-91764200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:91763800-91764000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:91764200-91764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:91764400-91765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:91765600-91767000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:91765800-91766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:91765800-91766800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:91765800-91766800	Enhancers	HMEC	breast
10	chr8:91765800-91767000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:91766000-91766600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:91766000-91767000	Enhancers	NHEK	skin
13	chr8:91766800-91781000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:91767000-91771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:91767000-91771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:91767000-91776200	Weak transcription	NHEK	skin
17	chr8:91770800-91771200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:91770800-91771200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:91770800-91771200	Enhancers	Brain Angular Gyrus	brain
20	chr8:91770800-91771200	Enhancers	Brain Anterior Caudate	brain
21	chr8:91770800-91771200	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:91770800-91771200	Enhancers	Brain Hippocampus Middle	brain
23	chr8:91770800-91771200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:91770800-91771200	Enhancers	NHDF-Ad	bronchial
25	chr8:91770800-91771200	Enhancers	Osteobl	bone
26	chr8:91770800-91771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:91770800-91771400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:91771000-91771400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:91771000-91771400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:91771200-91771600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:91775000-91781800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:91776200-91776600	Enhancers	NHEK	skin
33	chr8:91776600-91780600	Weak transcription	NHEK	skin
34	chr8:91780400-91780600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:91780600-91783800	Enhancers	NHEK	skin
36	chr8:91780600-91784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:91780600-91784200	Enhancers	HMEC	breast
38	chr8:91780800-91783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:91781000-91784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:91781800-91782400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:91781800-91783600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:91781800-91783800	Enhancers	NHDF-Ad	bronchial
43	chr8:91781800-91784000	Enhancers	NH-A	brain
44	chr8:91781800-91784200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:91782000-91783600	Enhancers	HSMM	muscle
46	chr8:91782000-91783800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:91782000-91783800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:91782000-91783800	Enhancers	Osteobl	bone
49	chr8:91782000-91784000	Enhancers	NHLF	lung
50	chr8:91782200-91783800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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