Variant report

Variant	nsv891410
Chromosome Location	chr8:118684994-118730344
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:10)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:118693119..118695515-chr8:118696203..118698417,2	K562	blood:
2	chr8:118690454..118692255-chr8:118707396..118710340,2	K562	blood:
3	chr17:41466304..41468583-chr8:118705753..118707273,3	K562	blood:
4	chr8:118316815..118318794-chr8:118706403..118708288,2	MCF-7	breast:
5	chr17:41466393..41467110-chr8:118706773..118707773,2	Hela-S3	cervix:
6	chr17:41464202..41466567-chr8:118705753..118708753,3	K562	blood:
7	chr17:41464202..41465897-chr8:118705753..118707273,2	K562	blood:
8	chr17:41466442..41468590-chr8:118705753..118707273,2	MCF-7	breast:
9	chr8:118690454..118692255-chr8:118707396..118710340,2	K562	blood:
10	chr8:118693119..118695515-chr8:118696203..118698417,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXT1-2	chr8:118724630-118724855	XLOC_007190
2	lnc-EXT1-3	chr8:118695828-118695922	XLOC_007189
3	lnc-EXT1-2	chr8:118725069-118725140	XLOC_007190
4	lnc-EXT1-2	chr8:118725284-118725297	XLOC_007190
5	lnc-EXT1-5	chr8:118699746-118699907	NONHSAT128400
6	lnc-EXT1-5	chr8:118717789-118718077	NONHSAT128400
7	lnc-EXT1-3	chr8:118695828-118695917	XLOC_007189
8	lnc-EXT1-3	chr8:118694232-118694403	XLOC_007189

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions

Extended variants
information (count: 1653 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7838659	chr8:118684994-118684995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187864405	chr8:118685019-118685020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539426272	chr8:118685047-118685048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3134382	chr8:118685049-118685050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147432500	chr8:118685071-118685072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551173096	chr8:118685116-118685117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565019579	chr8:118685121-118685122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192941625	chr8:118685219-118685220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7460970	chr8:118685259-118685260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527491744	chr8:118685297-118685298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113749112	chr8:118685305-118685306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556611474	chr8:118685311-118685312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578005122	chr8:118685323-118685324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184360519	chr8:118685337-118685338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560252518	chr8:118685373-118685374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189065477	chr8:118685392-118685393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540209799	chr8:118685428-118685429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560375498	chr8:118685430-118685431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567132979	chr8:118685490-118685491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144664540	chr8:118685518-118685519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181729908	chr8:118685534-118685535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111493006	chr8:118685565-118685566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549168452	chr8:118685582-118685583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147870153	chr8:118685638-118685639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148542237	chr8:118685639-118685640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531386100	chr8:118685644-118685645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184854444	chr8:118685699-118685700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532860701	chr8:118685704-118685705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565458495	chr8:118685728-118685729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10955824	chr8:118685747-118685748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577379534	chr8:118685784-118685785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189584810	chr8:118685798-118685799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180772138	chr8:118685856-118685857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112344862	chr8:118685881-118685882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567900175	chr8:118685906-118685907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571192945	chr8:118685931-118685932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372662301	chr8:118685946-118685947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556435183	chr8:118686007-118686008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578058934	chr8:118686029-118686030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151055485	chr8:118686189-118686190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79103111	chr8:118686303-118686304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199685069	chr8:118686304-118686305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554164317	chr8:118686353-118686354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34749240	chr8:118686357-118686358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397696337	chr8:118686370-118686371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572104470	chr8:118686401-118686402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113210818	chr8:118686411-118686412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141045196	chr8:118686429-118686430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561657694	chr8:118686451-118686452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529104320	chr8:118686464-118686465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118680000-118685200	Enhancers	HepG2	liver
2	chr8:118680800-118685200	Enhancers	Liver	Liver
3	chr8:118681000-118685000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:118681000-118685200	Enhancers	HMEC	breast
5	chr8:118681400-118685000	Enhancers	NHEK	skin
6	chr8:118681400-118685000	Enhancers	NHLF	lung
7	chr8:118681400-118685200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:118681400-118685200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:118681400-118685200	Enhancers	NHDF-Ad	bronchial
10	chr8:118683600-118685200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:118684000-118685000	Enhancers	Fetal Lung	lung
12	chr8:118684000-118685000	Enhancers	A549	lung
13	chr8:118684200-118685200	Enhancers	Osteobl	bone
14	chr8:118684600-118685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:118684600-118685200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:118684600-118685200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:118684600-118687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:118684600-118687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:118684800-118685000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:118684800-118687800	Weak transcription	HSMM	muscle
21	chr8:118684800-118688400	Weak transcription	NH-A	brain
22	chr8:118684800-118693600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:118685000-118685200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:118685000-118685200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:118685000-118687000	Weak transcription	NHEK	skin
26	chr8:118685000-118687400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:118685000-118694200	Weak transcription	NHLF	lung
28	chr8:118685200-118687000	Weak transcription	Osteobl	bone
29	chr8:118685200-118687200	Weak transcription	HMEC	breast
30	chr8:118685200-118687800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:118685200-118687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:118685200-118688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:118685200-118688200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:118685200-118688200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:118685200-118688400	Weak transcription	NHDF-Ad	bronchial
36	chr8:118685200-118688600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:118685200-118690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:118687000-118687400	Enhancers	Osteobl	bone
39	chr8:118687000-118689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:118687000-118689800	Enhancers	NHEK	skin
41	chr8:118687200-118689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:118687200-118689200	Enhancers	HMEC	breast
43	chr8:118687200-118689800	Enhancers	Dnd41	blood
44	chr8:118687400-118688400	Weak transcription	Osteobl	bone
45	chr8:118687400-118689200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:118687800-118688800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:118687800-118689000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:118687800-118689400	Enhancers	HSMM	muscle
49	chr8:118688200-118689200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:118688200-118689200	Enhancers	Muscle Satellite Cultured Cells	--

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