Variant report

Variant	nsv1017700
Chromosome Location	chr8:52886765-52917469
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	chr8:52810755..52813318-chr8:52906832..52909651,2	MCF-7	breast:
2	chr8:52897910..52900253-chr8:52910017..52911981,2	MCF-7	breast:
3	chr8:52811794..52813477-chr8:52893629..52895891,2	MCF-7	breast:
4	chr8:52809196..52811979-chr8:52914393..52916351,2	MCF-7	breast:
5	chr8:52810673..52812861-chr8:52901606..52905084,3	MCF-7	breast:
6	chr8:52897910..52900253-chr8:52910017..52911981,2	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
ENSG00000168300	chromatin interactions
ENSG00000228801	chromatin interactions

Extended variants
information (count: 1093 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201197320	chr8:52886806-52886807	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371915295	chr8:52886807-52886808	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377719429	chr8:52886820-52886821	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376748775	chr8:52886823-52886824	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528331422	chr8:52886824-52886825	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373910346	chr8:52886828-52886829	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201511217	chr8:52886829-52886830	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201141265	chr8:52886831-52886832	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199743598	chr8:52886832-52886833	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112745858	chr8:52886833-52886834	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576698125	chr8:52886861-52886862	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572805854	chr8:52886890-52886891	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544070290	chr8:52886914-52886915	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562214559	chr8:52886928-52886929	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368895773	chr8:52886932-52886933	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544766812	chr8:52886933-52886934	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559469965	chr8:52886959-52886960	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533245020	chr8:52886969-52886970	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140911699	chr8:52886989-52886990	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112333642	chr8:52887128-52887129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375962212	chr8:52887164-52887165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549276505	chr8:52887177-52887178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144858549	chr8:52887330-52887331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369289032	chr8:52887331-52887332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190322756	chr8:52887378-52887379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373902463	chr8:52887409-52887410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73681421	chr8:52887430-52887431	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369476623	chr8:52887510-52887511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571404905	chr8:52887528-52887529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1015213	chr8:52887541-52887542	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
31	rs180967308	chr8:52887553-52887554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576597351	chr8:52887625-52887626	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72639767	chr8:52887685-52887686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144936642	chr8:52887686-52887687	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573993620	chr8:52887707-52887708	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541071057	chr8:52887730-52887731	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376861854	chr8:52887763-52887764	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559307904	chr8:52887787-52887788	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529680159	chr8:52887896-52887897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577745212	chr8:52887946-52887947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371536535	chr8:52888018-52888019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545507612	chr8:52888020-52888021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183676818	chr8:52888024-52888025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546323902	chr8:52888031-52888032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7464074	chr8:52888043-52888044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530743905	chr8:52888044-52888045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148644180	chr8:52888078-52888079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142044001	chr8:52888079-52888080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528384607	chr8:52888087-52888088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6990124	chr8:52888148-52888149	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52885800-52887000	Active TSS	Fetal Intestine Large	intestine
2	chr8:52886000-52886800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:52886000-52886800	Enhancers	Fetal Lung	lung
4	chr8:52886000-52886800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:52886000-52886800	Flanking Active TSS	HepG2	liver
6	chr8:52886000-52886800	Enhancers	HUVEC	blood vessel
7	chr8:52886200-52886800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:52886200-52886800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr8:52886200-52886800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:52886200-52886800	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:52886200-52886800	Enhancers	Small Intestine	intestine
12	chr8:52886400-52886800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:52886600-52886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:52886600-52886800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:52886600-52886800	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr8:52886600-52886800	Enhancers	Fetal Kidney	kidney
17	chr8:52886600-52886800	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr8:52886600-52886800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:52886600-52886800	Active TSS	Stomach Smooth Muscle	stomach
20	chr8:52886600-52887000	Active TSS	Pancreas	Pancrea
21	chr8:52886600-52887800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:52886800-52887200	Enhancers	Fetal Intestine Small	intestine
23	chr8:52886800-52887400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:52887000-52906800	Weak transcription	Pancreas	Pancrea
25	chr8:52887200-52887800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:52887400-52888200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:52887600-52887800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:52887800-52888200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:52887800-52888200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr8:52888200-52892600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:52888200-52892600	Weak transcription	Fetal Intestine Small	intestine
32	chr8:52889600-52889800	Enhancers	Placenta	Placenta
33	chr8:52891800-52892000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:52891800-52892800	Enhancers	Placenta	Placenta
35	chr8:52892000-52893000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:52892400-52892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:52892400-52892600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:52892600-52892800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:52892600-52892800	Enhancers	Fetal Intestine Small	intestine
40	chr8:52892600-52893000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:52892600-52895000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:52892800-52893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:52892800-52893400	Enhancers	Fetal Kidney	kidney
44	chr8:52892800-52893400	Weak transcription	Placenta	Placenta
45	chr8:52893000-52893600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:52893400-52893600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:52893400-52894000	Enhancers	Placenta	Placenta
48	chr8:52893600-52898800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:52894000-52899400	Weak transcription	Placenta	Placenta
50	chr8:52895000-52895600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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