Variant report

Variant	nsv1024671
Chromosome Location	chr8:91740552-91781241
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:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:91766098..91768258-chr8:91780637..91782551,2	MCF-7	breast:
2	chr8:91766235..91766940-chr8:91924900..91925737,2	MCF-7	breast:
3	chr8:91653113..91664432-chr8:91761813..91773315,39	MCF-7	breast:
4	chr8:91752703..91756658-chr8:91764541..91767836,4	MCF-7	breast:
5	chr8:91763135..91765555-chr8:91908912..91910844,2	MCF-7	breast:
6	chr8:91762857..91766404-chr8:91774320..91778634,4	MCF-7	breast:
7	chr8:91754436..91757120-chr8:91761325..91764066,2	MCF-7	breast:
8	chr8:91780302..91782332-chr8:91899884..91901974,2	MCF-7	breast:
9	chr8:91764454..91766767-chr8:91767508..91769487,2	MCF-7	breast:
10	chr8:91766891..91772243-chr8:91870452..91873445,4	MCF-7	breast:
11	chr8:91761177..91764126-chr8:91764470..91768423,3	MCF-7	breast:
12	chr8:91688559..91689204-chr8:91770279..91771007,2	MCF-7	breast:
13	chr8:91704726..91706793-chr8:91760204..91762419,3	MCF-7	breast:
14	chr8:91770811..91771347-chr8:91929515..91930369,2	MCF-7	breast:
15	chr8:91777365..91779211-chr8:91782601..91784539,2	MCF-7	breast:
16	chr8:91687150..91691411-chr8:91769036..91770944,3	MCF-7	breast:
17	chr8:91766047..91768883-chr8:92082251..92083792,2	MCF-7	breast:
18	chr8:91656308..91658339-chr8:91737947..91741524,3	MCF-7	breast:
19	chr8:91659247..91662348-chr8:91780886..91783855,3	MCF-7	breast:
20	chr8:91780366..91783259-chr8:91839606..91841558,2	MCF-7	breast:
21	chr8:91770205..91772269-chr8:91928202..91930856,2	MCF-7	breast:
22	chr8:91705203..91706049-chr8:91766185..91766752,2	MCF-7	breast:
23	chr8:91770455..91771163-chr8:91959111..91959792,2	MCF-7	breast:
24	chr8:91703063..91706391-chr8:91765504..91767653,3	MCF-7	breast:
25	chr8:91770698..91772892-chr8:91772982..91776234,4	MCF-7	breast:
26	chr8:91769675..91771351-chr8:91958507..91960035,2	MCF-7	breast:
27	chr8:91764454..91766767-chr8:91767508..91769487,2	MCF-7	breast:
28	chr8:91752703..91756658-chr8:91764541..91767836,4	MCF-7	breast:
29	chr8:91769455..91772114-chr8:91781079..91783197,2	MCF-7	breast:
30	chr8:91770614..91773543-chr8:91803892..91805472,2	MCF-7	breast:
31	chr8:91655439..91662758-chr8:91763448..91768300,9	MCF-7	breast:
32	chr8:91684347..91686776-chr8:91767957..91769690,2	MCF-7	breast:
33	chr8:91656729..91659862-chr8:91772102..91775663,3	MCF-7	breast:
34	chr8:91769790..91771585-chr8:91929436..91931537,2	MCF-7	breast:
35	chr8:91769820..91771750-chr8:91998621..92000554,2	MCF-7	breast:
36	chr8:91012295..91015240-chr8:91766134..91769560,3	MCF-7	breast:
37	chr8:91765253..91769565-chr8:91914969..91917920,4	MCF-7	breast:
38	chr8:91703840..91704698-chr8:91766212..91767104,2	MCF-7	breast:
39	chr8:91770698..91772892-chr8:91772982..91776234,4	MCF-7	breast:
40	chr8:91769046..91772001-chr8:91960285..91962776,4	MCF-7	breast:
41	chr8:91770570..91771529-chr8:91929859..91930454,2	MCF-7	breast:
42	chr8:91658254..91660217-chr8:91752136..91754471,2	MCF-7	breast:
43	chr8:91770255..91771094-chr8:91960008..91961182,6	MCF-7	breast:
44	chr8:91764211..91766623-chr8:91897125..91900708,3	MCF-7	breast:
45	chr8:91766298..91768273-chr8:91958618..91960656,4	MCF-7	breast:
46	chr8:91649928..91652200-chr8:91774063..91776914,2	K562	blood:
47	chr8:91754436..91757120-chr8:91761325..91764066,2	MCF-7	breast:
48	chr8:91736004..91738134-chr8:91769334..91770895,2	MCF-7	breast:
49	chr8:91765280..91766814-chr8:91931264..91933251,2	MCF-7	breast:
50	chr8:91656743..91659535-chr8:91768664..91770530,4	MCF-7	breast:

No data

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

Extended variants
information (count: 849 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10956765	chr8:91740552-91740553	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184280041	chr8:91740573-91740574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10956766	chr8:91740592-91740593	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374691660	chr8:91740678-91740679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188617179	chr8:91740685-91740686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531901029	chr8:91740749-91740750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199718587	chr8:91740850-91740851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542198892	chr8:91740875-91740876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557123010	chr8:91740903-91740904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181882551	chr8:91740940-91740941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575767982	chr8:91740989-91740990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546215736	chr8:91741000-91741001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564638625	chr8:91741001-91741002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528720357	chr8:91741039-91741040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10956767	chr8:91741088-91741089	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577542282	chr8:91741090-91741091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10956768	chr8:91741099-91741100	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140192861	chr8:91741101-91741102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550525819	chr8:91741102-91741103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10956769	chr8:91741107-91741108	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533220086	chr8:91741173-91741174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374429354	chr8:91741180-91741181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186954479	chr8:91741187-91741188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561939316	chr8:91741208-91741209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566282476	chr8:91741233-91741234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533747410	chr8:91741234-91741235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529156227	chr8:91741245-91741246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555184118	chr8:91741349-91741350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542370123	chr8:91741377-91741378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568539505	chr8:91741384-91741385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561081491	chr8:91741388-91741389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12548491	chr8:91741391-91741392	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114209731	chr8:91741421-91741422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575567833	chr8:91741446-91741447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540100908	chr8:91741449-91741450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201566366	chr8:91741453-91741454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113445888	chr8:91741484-91741485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573436175	chr8:91741498-91741499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371923374	chr8:91741503-91741504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199894983	chr8:91742666-91742667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187813439	chr8:91742690-91742691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543229072	chr8:91742739-91742740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377114402	chr8:91742797-91742798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140105566	chr8:91742831-91742832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201222606	chr8:91742837-91742838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369419186	chr8:91742887-91742888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372091521	chr8:91742893-91742894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539693552	chr8:91742897-91742898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566824347	chr8:91742919-91742920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527695067	chr8:91742936-91742937	Enhancers	n/a	n/a	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91742600-91743000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:91746800-91747000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91761000-91761200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:91761800-91764200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:91763800-91764000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:91764200-91764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:91764400-91765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:91765600-91767000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:91765800-91766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:91765800-91766800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:91765800-91766800	Enhancers	HMEC	breast
12	chr8:91765800-91767000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:91766000-91766600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:91766000-91767000	Enhancers	NHEK	skin
15	chr8:91766800-91781000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:91767000-91771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:91767000-91771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:91767000-91776200	Weak transcription	NHEK	skin
19	chr8:91770800-91771200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:91770800-91771200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:91770800-91771200	Enhancers	Brain Angular Gyrus	brain
22	chr8:91770800-91771200	Enhancers	Brain Anterior Caudate	brain
23	chr8:91770800-91771200	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:91770800-91771200	Enhancers	Brain Hippocampus Middle	brain
25	chr8:91770800-91771200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:91770800-91771200	Enhancers	NHDF-Ad	bronchial
27	chr8:91770800-91771200	Enhancers	Osteobl	bone
28	chr8:91770800-91771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:91770800-91771400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:91771000-91771400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:91771000-91771400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:91771200-91771600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:91775000-91781800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:91776200-91776600	Enhancers	NHEK	skin
35	chr8:91776600-91780600	Weak transcription	NHEK	skin
36	chr8:91780400-91780600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr8:91780600-91783800	Enhancers	NHEK	skin
38	chr8:91780600-91784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:91780600-91784200	Enhancers	HMEC	breast
40	chr8:91780800-91783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:91781000-91784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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