Variant report

Variant	nsv525416
Chromosome Location	chr8:122425336-122445322
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:0)
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	chr8:122437593..122440678-chr8:122446025..122448409,3	MCF-7	breast:
2	chr8:122439583..122442142-chr8:122442320..122444003,2	MCF-7	breast:
3	chr8:122439865..122442471-chr8:122444177..122445694,2	MCF-7	breast:
4	chr8:122418672..122419277-chr8:122444604..122445162,2	MCF-7	breast:
5	chr8:122439865..122442471-chr8:122444177..122445694,2	MCF-7	breast:
6	chr8:122439583..122442142-chr8:122442320..122444003,2	MCF-7	breast:
7	chr8:122418518..122419266-chr8:122444555..122445114,2	MCF-7	breast:
8	chr8:122174198..122176101-chr8:122438175..122440772,2	MCF-7	breast:
9	chr8:122443838..122446370-chr8:122448099..122450966,2	MCF-7	breast:
10	chr8:122163091..122163821-chr8:122444540..122445190,3	MCF-7	breast:

No data

Extended variants
information (count: 397 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6984258	chr8:122425336-122425337	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192583932	chr8:122425339-122425340	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542526121	chr8:122425346-122425347	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577462682	chr8:122425351-122425352	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145163200	chr8:122425368-122425369	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551485560	chr8:122425380-122425381	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574348835	chr8:122425385-122425386	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543445209	chr8:122425427-122425428	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377505030	chr8:122425439-122425440	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185324556	chr8:122425510-122425511	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139041139	chr8:122425549-122425550	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559084585	chr8:122425551-122425552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73330288	chr8:122425556-122425557	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188185761	chr8:122425575-122425576	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553443290	chr8:122425578-122425579	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568387895	chr8:122425650-122425651	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374936644	chr8:122425686-122425687	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73330290	chr8:122425699-122425700	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550907499	chr8:122425736-122425737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570782110	chr8:122425767-122425768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539909390	chr8:122425814-122425815	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192687463	chr8:122425987-122425988	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371697150	chr8:122425988-122425989	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546313101	chr8:122425996-122425997	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536104622	chr8:122426018-122426019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184872704	chr8:122426022-122426023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562962882	chr8:122426023-122426024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575853281	chr8:122426039-122426040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188415454	chr8:122426040-122426041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145829550	chr8:122426078-122426079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180779091	chr8:122426079-122426080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13258852	chr8:122426082-122426083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576445376	chr8:122426089-122426090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545474874	chr8:122426105-122426106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138259146	chr8:122426115-122426116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559048160	chr8:122426121-122426122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556470274	chr8:122426139-122426140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6989638	chr8:122426155-122426156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541661859	chr8:122426194-122426195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561738345	chr8:122426198-122426199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184191980	chr8:122426222-122426223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554315747	chr8:122426241-122426242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550618991	chr8:122426246-122426247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189894965	chr8:122426253-122426254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55779756	chr8:122426268-122426269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370512035	chr8:122426278-122426279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181119713	chr8:122426283-122426284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567013558	chr8:122426290-122426291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553760962	chr8:122426320-122426321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58990071	chr8:122426322-122426323	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122423800-122426600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:122425000-122426600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:122425200-122426000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:122425400-122425600	Enhancers	Gastric	stomach
5	chr8:122426000-122426600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:122436400-122439200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:122437000-122440000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:122437400-122439400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:122437600-122440200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:122438000-122439600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:122438600-122439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:122438800-122439400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:122438800-122442200	Enhancers	HepG2	liver
14	chr8:122439000-122439400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:122439000-122440000	Enhancers	Fetal Lung	lung
16	chr8:122439200-122439600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:122439200-122439600	Enhancers	Fetal Brain Female	brain
18	chr8:122439200-122439600	Enhancers	A549	lung
19	chr8:122439200-122440000	Enhancers	Gastric	stomach
20	chr8:122439200-122440000	Enhancers	Pancreas	Pancrea
21	chr8:122439200-122440000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:122439200-122440000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:122439400-122439600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:122439400-122440200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:122439400-122442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:122439600-122440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:122439600-122440200	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:122439600-122440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:122439600-122442400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:122439600-122442600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:122439800-122440200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:122439800-122440400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:122440000-122443800	Weak transcription	Fetal Lung	lung
34	chr8:122440200-122443400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:122441200-122441600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:122441400-122441600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:122442000-122442200	Enhancers	Fetal Stomach	stomach
38	chr8:122442200-122443400	Weak transcription	HepG2	liver
39	chr8:122442200-122444000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:122442200-122444800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:122442400-122444200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:122442600-122443800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:122442800-122443600	Weak transcription	Fetal Stomach	stomach
44	chr8:122443000-122444000	Enhancers	Adipose Nuclei	Adipose
45	chr8:122443000-122444600	Enhancers	Fetal Muscle Leg	muscle
46	chr8:122443400-122444200	Enhancers	Fetal Kidney	kidney
47	chr8:122443400-122444400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:122443600-122443800	Enhancers	HepG2	liver
49	chr8:122443600-122444200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:122443600-122444400	Enhancers	Fetal Stomach	stomach

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