Variant report

Variant	nsv1030947
Chromosome Location	chr8:54535233-54592073
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54556956..54558528-chr8:54569373..54571068,2	MCF-7	breast:
2	chr8:54563689..54565236-chr8:54567231..54570214,2	K562	blood:
3	chr8:54563689..54565236-chr8:54567231..54570214,2	K562	blood:
4	chr8:54539383..54541156-chr8:54547912..54549422,2	K562	blood:
5	chr8:54561725..54563448-chr8:54565234..54566808,2	K562	blood:
6	chr8:54547138..54549363-chr8:54573155..54575642,2	MCF-7	breast:
7	chr8:54556956..54558528-chr8:54569373..54571068,2	MCF-7	breast:
8	chr8:54561725..54563448-chr8:54565234..54566808,2	K562	blood:
9	chr8:54577235..54579753-chr8:54579803..54581358,2	MCF-7	breast:
10	chr8:54577235..54579753-chr8:54579803..54581358,2	MCF-7	breast:
11	chr8:54547138..54549363-chr8:54573155..54575642,2	MCF-7	breast:
12	chr8:54539383..54541156-chr8:54547912..54549422,2	K562	blood:
13	chr8:54569929..54571839-chr8:54577373..54579144,2	K562	blood:
14	chr8:54569929..54571839-chr8:54577373..54579144,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1H-4	chr8:54590284-54592067	ucscGeneNc_uc003xrj_1

No data

Extended variants
information (count: 1650 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537586906	chr8:54535256-54535257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187421812	chr8:54535257-54535258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192604800	chr8:54535286-54535287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149361971	chr8:54535298-54535299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553506853	chr8:54535303-54535304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532446671	chr8:54535304-54535305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573206728	chr8:54535310-54535311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6473873	chr8:54535433-54535434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557373461	chr8:54535461-54535462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377683944	chr8:54535475-54535476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577217208	chr8:54535486-54535487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559221390	chr8:54535487-54535488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543534587	chr8:54535511-54535512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563222055	chr8:54535560-54535561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183326872	chr8:54535563-54535564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186955835	chr8:54535575-54535576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144838559	chr8:54535595-54535596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528434845	chr8:54535603-54535604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544790899	chr8:54535622-54535623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59384766	chr8:54535626-54535627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538008201	chr8:54535645-54535646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142915625	chr8:54535655-54535656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556546039	chr8:54535682-54535683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531541477	chr8:54535698-54535699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550915570	chr8:54535717-54535718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567678950	chr8:54535732-54535733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192712492	chr8:54535774-54535775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540312396	chr8:54535787-54535788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546800802	chr8:54535824-54535825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6989676	chr8:54535835-54535836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538994990	chr8:54535862-54535863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558804387	chr8:54535880-54535881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570945304	chr8:54535892-54535893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7464047	chr8:54535905-54535906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552118417	chr8:54535918-54535919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184127271	chr8:54535924-54535925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189874567	chr8:54535932-54535933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565194103	chr8:54535942-54535943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553250743	chr8:54535952-54535953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144020132	chr8:54535983-54535984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146465804	chr8:54536019-54536020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192572800	chr8:54536034-54536035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28864720	chr8:54536044-54536045	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530712566	chr8:54536077-54536078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114666431	chr8:54536103-54536104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567333780	chr8:54536174-54536175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188843055	chr8:54536199-54536200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530178081	chr8:54536215-54536216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546688622	chr8:54536217-54536218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10711314	chr8:54536219-54536220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54530600-54536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:54532000-54538400	Weak transcription	Fetal Brain Male	brain
3	chr8:54534000-54535600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:54534400-54535400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:54536000-54537000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:54537400-54544200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:54538200-54538600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:54538400-54538600	Enhancers	Fetal Brain Male	brain
9	chr8:54544200-54544400	Enhancers	Esophagus	oesophagus
10	chr8:54544200-54545000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:54544200-54545000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:54544200-54545000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:54544200-54545000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:54544200-54545600	Enhancers	Placenta	Placenta
15	chr8:54544400-54544800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:54544400-54544800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:54544400-54545200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:54544400-54545200	Enhancers	Fetal Muscle Leg	muscle
19	chr8:54544800-54545600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:54545000-54546200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:54546200-54546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:54554800-54557000	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:54555000-54555400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:54555000-54569600	Weak transcription	Right Atrium	heart
25	chr8:54555200-54559200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:54555800-54556800	Enhancers	Fetal Lung	lung
27	chr8:54556000-54557200	Enhancers	Stomach Smooth Muscle	stomach
28	chr8:54556200-54558600	Enhancers	Ovary	ovary
29	chr8:54556400-54558600	Enhancers	HSMMtube	muscle
30	chr8:54556400-54559200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:54556600-54556800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:54556600-54558600	Enhancers	NHLF	lung
33	chr8:54556800-54557200	Flanking Active TSS	Fetal Lung	lung
34	chr8:54556800-54557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:54557000-54557400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:54557000-54557600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:54557000-54557800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:54557000-54558400	Enhancers	HSMM	muscle
39	chr8:54557200-54558400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:54557200-54558600	Enhancers	Fetal Lung	lung
41	chr8:54557400-54558200	Enhancers	Aorta	Aorta
42	chr8:54557400-54558400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:54557400-54558400	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:54557600-54558600	Enhancers	Fetal Stomach	stomach
45	chr8:54558200-54569800	Weak transcription	Aorta	Aorta
46	chr8:54560800-54561000	Enhancers	Esophagus	oesophagus
47	chr8:54562600-54563400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr8:54562600-54563400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:54562600-54563400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr8:54562600-54563600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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