Variant report

Variant	nsv1018697
Chromosome Location	chr8:91727874-91786987
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:88)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:91783038..91783752-chr8:91900003..91901204,3	MCF-7	breast:
2	chr8:91782953..91784841-chr8:91898375..91901413,3	MCF-7	breast:
3	chr8:91762857..91766404-chr8:91774320..91778634,4	MCF-7	breast:
4	chr8:91769046..91772001-chr8:91960285..91962776,4	MCF-7	breast:
5	chr8:91783111..91784615-chr8:91894731..91896349,2	MCF-7	breast:
6	chr8:91752703..91756658-chr8:91764541..91767836,4	MCF-7	breast:
7	chr8:91725279..91726817-chr8:91730526..91732443,2	K562	blood:
8	chr8:91769455..91772114-chr8:91781079..91783197,2	MCF-7	breast:
9	chr8:91781884..91783828-chr8:91937169..91939199,2	MCF-7	breast:
10	chr8:91704726..91706793-chr8:91760204..91762419,3	MCF-7	breast:
11	chr8:91762857..91766404-chr8:91774320..91778634,4	MCF-7	breast:
12	chr8:91769455..91772114-chr8:91781079..91783197,2	MCF-7	breast:
13	chr8:91766098..91768258-chr8:91780637..91782551,2	MCF-7	breast:
14	chr8:91684347..91686776-chr8:91767957..91769690,2	MCF-7	breast:
15	chr8:91765280..91766814-chr8:91931264..91933251,2	MCF-7	breast:
16	chr8:91736004..91738134-chr8:91769334..91770895,2	MCF-7	breast:
17	chr8:91726760..91728547-chr8:91734887..91737220,2	K562	blood:
18	chr8:91656743..91659535-chr8:91768664..91770530,4	MCF-7	breast:
19	chr8:91702608..91708143-chr8:91763380..91770972,10	MCF-7	breast:
20	chr8:91783781..91785698-chr8:91798170..91800871,2	MCF-7	breast:
21	chr8:91780302..91782332-chr8:91899884..91901974,2	MCF-7	breast:
22	chr8:91785433..91788036-chr8:91793796..91796781,2	MCF-7	breast:
23	chr8:91763135..91765555-chr8:91908912..91910844,2	MCF-7	breast:
24	chr8:91656308..91658339-chr8:91737947..91741524,3	MCF-7	breast:
25	chr8:91770205..91772269-chr8:91928202..91930856,2	MCF-7	breast:
26	chr8:91781882..91784742-chr8:91787423..91790855,3	K562	blood:
27	chr8:91766235..91766940-chr8:91924900..91925737,2	MCF-7	breast:
28	chr8:91770190..91771184-chr8:91960249..91961190,6	MCF-7	breast:
29	chr8:91777365..91779211-chr8:91782601..91784539,2	MCF-7	breast:
30	chr8:91730302..91732803-chr8:91737135..91740294,3	MCF-7	breast:
31	chr8:91703809..91704698-chr8:91766212..91767104,5	MCF-7	breast:
32	chr8:91764454..91766767-chr8:91767508..91769487,2	MCF-7	breast:
33	chr8:91781643..91786719-chr8:91923582..91929024,8	MCF-7	breast:
34	chr8:91769820..91771750-chr8:91998621..92000554,2	MCF-7	breast:
35	chr8:91754436..91757120-chr8:91761325..91764066,2	MCF-7	breast:
36	chr8:91729918..91732272-chr8:91732384..91735026,2	MCF-7	breast:
37	chr8:91764454..91766767-chr8:91767508..91769487,2	MCF-7	breast:
38	chr8:91770570..91771529-chr8:91929859..91930454,2	MCF-7	breast:
39	chr8:91770698..91772892-chr8:91772982..91776234,4	MCF-7	breast:
40	chr8:91687150..91691411-chr8:91769036..91770944,3	MCF-7	breast:
41	chr8:91766891..91772243-chr8:91870452..91873445,4	MCF-7	breast:
42	chr8:91659247..91662348-chr8:91780886..91783855,3	MCF-7	breast:
43	chr8:91770698..91772892-chr8:91772982..91776234,4	MCF-7	breast:
44	chr8:91770811..91771347-chr8:91929515..91930369,2	MCF-7	breast:
45	chr8:91729918..91732272-chr8:91732384..91735026,2	MCF-7	breast:
46	chr8:91763941..91769111-chr8:91924081..91929908,10	MCF-7	breast:
47	chr8:91777365..91779211-chr8:91782601..91784539,2	MCF-7	breast:
48	chr8:91658254..91660217-chr8:91752136..91754471,2	MCF-7	breast:
49	chr8:91782138..91786093-chr8:91924944..91927174,4	MCF-7	breast:
50	chr8:91774716..91776551-chr8:91899824..91902199,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NECAB1-2	chr8:91727845-91728037	ucscGeneNc_uc003yep_2
2	lnc-NECAB1-2	chr8:91729882-91733159	ucscGeneNc_uc003yep_2

No data

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

Extended variants
information (count: 1487 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1487 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185326352	chr8:91727876-91727877	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs560198773	chr8:91727885-91727886	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs189860011	chr8:91727901-91727902	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs548956899	chr8:91727924-91727925	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs34223493	chr8:91727991-91727992	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77302114	chr8:91728009-91728010	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs57970843	chr8:91728010-91728011	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554836698	chr8:91728073-91728074	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370851957	chr8:91728083-91728084	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35833328	chr8:91728128-91728129	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538829269	chr8:91728280-91728281	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74581187	chr8:91728320-91728321	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189261538	chr8:91728434-91728435	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558438768	chr8:91728462-91728463	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372679991	chr8:91728497-91728498	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576642361	chr8:91728541-91728542	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534078118	chr8:91728543-91728544	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3964635	chr8:91728558-91728559	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180999536	chr8:91728559-91728560	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559052179	chr8:91728568-91728569	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544883185	chr8:91728594-91728595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185936669	chr8:91728627-91728628	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4041512	chr8:91728648-91728649	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140441700	chr8:91728688-91728689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545595443	chr8:91728695-91728696	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191429619	chr8:91728711-91728712	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs541501684	chr8:91728712-91728713	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374315030	chr8:91728825-91728826	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13260220	chr8:91728827-91728828	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80105881	chr8:91728835-91728836	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531223652	chr8:91728878-91728879	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182799816	chr8:91728975-91728976	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs145370222	chr8:91729003-91729004	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs117187900	chr8:91729035-91729036	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547566441	chr8:91729159-91729160	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187022737	chr8:91729182-91729183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191456142	chr8:91729184-91729185	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147675992	chr8:91729203-91729204	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567633245	chr8:91729211-91729212	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538248595	chr8:91729222-91729223	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556858968	chr8:91729258-91729259	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182946943	chr8:91729286-91729287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545426591	chr8:91729288-91729289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554321741	chr8:91729314-91729315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565445707	chr8:91729335-91729336	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188062818	chr8:91729343-91729344	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376170997	chr8:91729378-91729379	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542281368	chr8:91729389-91729390	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs560652692	chr8:91729395-91729396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371716987	chr8:91729405-91729406	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91734000-91734400	Enhancers	Brain Hippocampus Middle	brain
2	chr8:91734000-91734600	Enhancers	Brain Anterior Caudate	brain
3	chr8:91734600-91736400	Enhancers	NHDF-Ad	bronchial
4	chr8:91734600-91736600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:91734800-91736400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:91735000-91736400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:91735000-91736400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:91735000-91736600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:91735200-91735600	Enhancers	Osteobl	bone
10	chr8:91735400-91735600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:91736000-91736400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:91736200-91736400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:91736200-91736600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:91736400-91737200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:91736400-91739000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:91739000-91739200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:91742600-91743000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:91746800-91747000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:91761000-91761200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:91761800-91764200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:91763800-91764000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:91764200-91764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:91764400-91765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:91765600-91767000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:91765800-91766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:91765800-91766800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:91765800-91766800	Enhancers	HMEC	breast
28	chr8:91765800-91767000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:91766000-91766600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:91766000-91767000	Enhancers	NHEK	skin
31	chr8:91766800-91781000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:91767000-91771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:91767000-91771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:91767000-91776200	Weak transcription	NHEK	skin
35	chr8:91770800-91771200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:91770800-91771200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:91770800-91771200	Enhancers	Brain Angular Gyrus	brain
38	chr8:91770800-91771200	Enhancers	Brain Anterior Caudate	brain
39	chr8:91770800-91771200	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:91770800-91771200	Enhancers	Brain Hippocampus Middle	brain
41	chr8:91770800-91771200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:91770800-91771200	Enhancers	NHDF-Ad	bronchial
43	chr8:91770800-91771200	Enhancers	Osteobl	bone
44	chr8:91770800-91771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:91770800-91771400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:91771000-91771400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:91771000-91771400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:91771200-91771600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:91775000-91781800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:91776200-91776600	Enhancers	NHEK	skin

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