Variant report

Variant	nsv891417
Chromosome Location	chr8:120329940-120365319
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120364256..120366080-chr8:120367692..120369554,2	K562	blood:
2	chr8:120361328..120364050-chr8:120365254..120366960,2	K562	blood:
3	chr8:120330259..120332172-chr8:120335142..120336814,2	MCF-7	breast:
4	chr8:120276196..120276919-chr8:120365000..120365869,2	MCF-7	breast:
5	chr2:113300762..113301271-chr8:120350227..120350748,2	MCF-7	breast:
6	chr8:120361328..120364050-chr8:120365254..120366960,2	K562	blood:
7	chr8:120330259..120332172-chr8:120335142..120336814,2	MCF-7	breast:
8	chr8:120361328..120363061-chr8:120365460..120367598,2	K562	blood:
9	chr1:16931501..16933365-chr8:120352686..120354205,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548az-5p	chr8:120337430-120337451	MIMAT0025456
hsa-miR-548az-3p	chr8:120337468-120337488	MIMAT0025457

No data

Extended variants
information (count: 928 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36113205	chr8:120336432-120336433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537210817	chr8:120336434-120336435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556899802	chr8:120336473-120336474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546626178	chr8:120336503-120336504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs66473116	chr8:120336520-120336521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59334840	chr8:120336521-120336522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541935195	chr8:120336561-120336562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145354218	chr8:120336562-120336563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568356028	chr8:120336583-120336584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369159460	chr8:120337648-120337649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535771833	chr8:120337649-120337650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569935522	chr8:120337652-120337653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537356730	chr8:120337671-120337672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74381512	chr8:120337745-120337746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576041323	chr8:120337767-120337768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115074425	chr8:120337893-120337894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558821560	chr8:120337987-120337988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571022102	chr8:120338018-120338019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184207143	chr8:120338035-120338036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534762280	chr8:120338049-120338050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552969942	chr8:120338057-120338058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574456183	chr8:120338058-120338059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6987795	chr8:120338067-120338068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200329511	chr8:120338070-120338071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1381340	chr8:120338082-120338083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373465759	chr8:120338098-120338099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73712604	chr8:120338100-120338101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189030953	chr8:120338104-120338105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73318409	chr8:120338160-120338161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146980725	chr8:120338194-120338195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199901975	chr8:120338208-120338209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181894877	chr8:120338251-120338252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73712605	chr8:120338408-120338409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534340356	chr8:120338423-120338424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187274701	chr8:120338448-120338449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533034506	chr8:120338453-120338454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551556342	chr8:120338471-120338472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566520483	chr8:120338485-120338486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201909299	chr8:120338495-120338496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540924604	chr8:120338514-120338515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190514630	chr8:120338565-120338566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568144722	chr8:120338589-120338590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182441429	chr8:120338631-120338632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574486234	chr8:120338702-120338703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374639234	chr8:120338708-120338709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557272923	chr8:120338719-120338720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs765894	chr8:120338917-120338918	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs765892	chr8:120339019-120339020	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs546136306	chr8:120339034-120339035	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558356174	chr8:120339060-120339061	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
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	17603634	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
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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120336400-120336600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:120337600-120338800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120337600-120340200	Enhancers	HepG2	liver
4	chr8:120337800-120339600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:120338000-120341200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:120338400-120339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:120338800-120339200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:120338800-120339400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:120338800-120339400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:120338800-120339400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:120338800-120339400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:120338800-120339400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:120338800-120339400	Enhancers	Fetal Lung	lung
14	chr8:120339000-120339400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:120339000-120339400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:120339400-120340200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:120339400-120340600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:120340200-120341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:120341200-120341400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:120341400-120342200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:120342200-120342400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:120342200-120342400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:120342400-120342600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:120342400-120343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:120342600-120343000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:120343000-120343800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:120343400-120343600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:120343600-120344000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:120344000-120344400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:120346200-120348200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:120346400-120346800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:120349200-120349600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:120349200-120349600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:120349200-120349600	Enhancers	Aorta	Aorta
35	chr8:120349200-120349800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:120349200-120349800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:120349600-120375000	Weak transcription	Aorta	Aorta
38	chr8:120351000-120351400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:120355200-120355400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:120355400-120356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:120356200-120357000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:120357000-120357200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:120357200-120358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:120357400-120358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:120358400-120361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:120358600-120359800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:120361000-120362000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:120362000-120362200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:120364200-120364600	Enhancers	Fetal Muscle Leg	muscle
50	chr8:120364600-120365800	Weak transcription	Fetal Muscle Leg	muscle

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