Variant report

Variant	nsv508529
Chromosome Location	chr8:132269312-132303262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1084 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:1084 , 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	rs535500393	chr8:132272674-132272675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573065940	chr8:132272680-132272681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146651144	chr8:132272778-132272779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74369880	chr8:132272800-132272801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140090353	chr8:132272804-132272805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs545041290	chr8:132272848-132272849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368525377	chr8:132272849-132272850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530940589	chr8:132272850-132272851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191770331	chr8:132272868-132272869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150281356	chr8:132272889-132272890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528612312	chr8:132272895-132272896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138935129	chr8:132272908-132272909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576466748	chr8:132272911-132272912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184688021	chr8:132272913-132272914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543580459	chr8:132272936-132272937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372473686	chr8:132272938-132272939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149410209	chr8:132272939-132272940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550332607	chr8:132272944-132272945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568820222	chr8:132272949-132272950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536004452	chr8:132272958-132272959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541341199	chr8:132272963-132272964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554702540	chr8:132273024-132273025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189012334	chr8:132273055-132273056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533936861	chr8:132273095-132273096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558908415	chr8:132273134-132273135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577037428	chr8:132273141-132273142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182008899	chr8:132273173-132273174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147079784	chr8:132273178-132273179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575589215	chr8:132273185-132273186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374249493	chr8:132273207-132273208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542713140	chr8:132273215-132273216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573912811	chr8:132273227-132273228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531907090	chr8:132273231-132273232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75281942	chr8:132273274-132273275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528676497	chr8:132273278-132273279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555347992	chr8:132273308-132273309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138402851	chr8:132273310-132273311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565454105	chr8:132273325-132273326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143889461	chr8:132273337-132273338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187307533	chr8:132273351-132273352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs55974539	chr8:132273362-132273363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs74427130	chr8:132273363-132273364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147272427	chr8:132273364-132273365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148728808	chr8:132273366-132273367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571606895	chr8:132273385-132273386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533495316	chr8:132273386-132273387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534001066	chr8:132273394-132273395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558818149	chr8:132273410-132273411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576957093	chr8:132273441-132273442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs537795920	chr8:132273442-132273443	ZNF genes & repeats	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
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
Acute myeloid leukemia	20729466	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
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
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
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
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132272600-132274600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132273600-132274600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr8:132273600-132274800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:132281800-132282200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:132282200-132284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:132284000-132284200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:132284200-132289200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:132289200-132290000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:132290000-132301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:132290800-132292400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:132292400-132294800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:132294800-132295600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:132295600-132296800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:132297000-132297200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:132297000-132297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:132297600-132300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:132300600-132301200	Enhancers	HMEC	breast
18	chr8:132300800-132301000	Enhancers	Gastric	stomach
19	chr8:132300800-132301200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:132300800-132301200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:132300800-132301200	Enhancers	NH-A	brain
22	chr8:132300800-132302200	Enhancers	NHLF	lung
23	chr8:132300800-132303600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:132301200-132301400	Flanking Active TSS	NH-A	brain
25	chr8:132301200-132301600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:132301200-132301600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:132301200-132301600	Flanking Active TSS	HMEC	breast
28	chr8:132301400-132301600	Enhancers	NH-A	brain
29	chr8:132301400-132302800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr8:132301600-132301800	Flanking Active TSS	NH-A	brain
31	chr8:132301600-132302000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:132301600-132302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:132301600-132303400	Enhancers	HMEC	breast
34	chr8:132301800-132302200	Enhancers	Fetal Intestine Large	intestine
35	chr8:132301800-132302200	Enhancers	NH-A	brain
36	chr8:132301800-132303200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:132301800-132303400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:132301800-132304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:132302400-132307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:132302800-132303000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:132302800-132303200	Enhancers	Fetal Brain Male	brain
42	chr8:132303000-132303200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr8:132303000-132303600	Enhancers	Fetal Brain Female	brain
44	chr8:132303200-132303400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:132303200-132306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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