Variant report

Variant	nsv520947
Chromosome Location	chr8:52887541-52915994
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:52897910..52900253-chr8:52910017..52911981,2	MCF-7	breast:
2	chr8:52897910..52900253-chr8:52910017..52911981,2	MCF-7	breast:
3	chr8:52810755..52813318-chr8:52906832..52909651,2	MCF-7	breast:
4	chr8:52810673..52812861-chr8:52901606..52905084,3	MCF-7	breast:
5	chr8:52811794..52813477-chr8:52893629..52895891,2	MCF-7	breast:
6	chr8:52809196..52811979-chr8:52914393..52916351,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC090186.1-2	chr8:52888095-52888136	NONHSAT126547
2	lnc-PCMTD1-1	chr8:52908770-52908827	ENSG00000254136

No data

Variant related genes	Relation type
ENSG00000228801	chromatin interactions
ENSG00000168300	chromatin interactions

Extended variants
information (count: 1021 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1021 , 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	rs1015213	chr8:52887541-52887542	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs180967308	chr8:52887553-52887554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576597351	chr8:52887625-52887626	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72639767	chr8:52887685-52887686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144936642	chr8:52887686-52887687	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573993620	chr8:52887707-52887708	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541071057	chr8:52887730-52887731	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376861854	chr8:52887763-52887764	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559307904	chr8:52887787-52887788	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529680159	chr8:52887896-52887897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577745212	chr8:52887946-52887947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371536535	chr8:52888018-52888019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545507612	chr8:52888020-52888021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183676818	chr8:52888024-52888025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546323902	chr8:52888031-52888032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7464074	chr8:52888043-52888044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530743905	chr8:52888044-52888045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148644180	chr8:52888078-52888079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142044001	chr8:52888079-52888080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528384607	chr8:52888087-52888088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6990124	chr8:52888148-52888149	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571239919	chr8:52888157-52888158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538225569	chr8:52888177-52888178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151146295	chr8:52888207-52888208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568816676	chr8:52888321-52888322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567694739	chr8:52888360-52888361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537653035	chr8:52888407-52888408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368213399	chr8:52888438-52888439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75906189	chr8:52888515-52888516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534967707	chr8:52888523-52888524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553225533	chr8:52888555-52888556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577630971	chr8:52888607-52888608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188678680	chr8:52888656-52888657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563808704	chr8:52888688-52888689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372422849	chr8:52888695-52888696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542846610	chr8:52888739-52888740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532864059	chr8:52888742-52888743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181111667	chr8:52888747-52888748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560524385	chr8:52888772-52888773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528423808	chr8:52888774-52888775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533855003	chr8:52888775-52888776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540552302	chr8:52888802-52888803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185660084	chr8:52888816-52888817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532140741	chr8:52888845-52888846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550257730	chr8:52888856-52888857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190431315	chr8:52888874-52888875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113739140	chr8:52888880-52888881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529739542	chr8:52888884-52888885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552768594	chr8:52888927-52888928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549197482	chr8:52888940-52888941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Pancreatic endocrine tumor	17639061	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52886600-52887800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:52887000-52906800	Weak transcription	Pancreas	Pancrea
3	chr8:52887200-52887800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:52887400-52888200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:52887600-52887800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:52887800-52888200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:52887800-52888200	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr8:52888200-52892600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:52888200-52892600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:52889600-52889800	Enhancers	Placenta	Placenta
11	chr8:52891800-52892000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:52891800-52892800	Enhancers	Placenta	Placenta
13	chr8:52892000-52893000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:52892400-52892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:52892400-52892600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:52892600-52892800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:52892600-52892800	Enhancers	Fetal Intestine Small	intestine
18	chr8:52892600-52893000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:52892600-52895000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:52892800-52893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:52892800-52893400	Enhancers	Fetal Kidney	kidney
22	chr8:52892800-52893400	Weak transcription	Placenta	Placenta
23	chr8:52893000-52893600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:52893400-52893600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:52893400-52894000	Enhancers	Placenta	Placenta
26	chr8:52893600-52898800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:52894000-52899400	Weak transcription	Placenta	Placenta
28	chr8:52895000-52895600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:52895000-52895600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:52895000-52895800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:52895200-52896000	Enhancers	Psoas Muscle	Psoas
32	chr8:52895600-52896600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:52896600-52896800	Enhancers	HepG2	liver
34	chr8:52896600-52897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:52897000-52899600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:52898600-52901200	Enhancers	HepG2	liver
37	chr8:52898800-52900200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:52899400-52899800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:52899400-52899800	Enhancers	Ovary	ovary
40	chr8:52899400-52900000	Enhancers	Placenta	Placenta
41	chr8:52899400-52901600	Enhancers	GM12878-XiMat	blood
42	chr8:52899600-52900000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:52899600-52902000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:52900800-52901600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:52901000-52901600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:52901200-52901400	Enhancers	Fetal Thymus	thymus
47	chr8:52901200-52901600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:52901200-52901600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:52901200-52901600	Enhancers	HMEC	breast
50	chr8:52901600-52902800	Weak transcription	Fetal Thymus	thymus

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