Variant report

Variant	nsv891451
Chromosome Location	chr8:132252439-132311479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:132257100..132257721-chr8:132812114..132812872,2	MCF-7	breast:
2	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:
3	chr8:132257743..132258760-chr8:132816151..132817060,6	MCF-7	breast:
4	chr8:132258327..132259215-chr8:132816586..132817090,2	MCF-7	breast:

Extended variants
information (count: 1767 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:1767 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74318874	chr8:132253813-132253814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151122566	chr8:132253851-132253852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557925353	chr8:132253901-132253902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35628288	chr8:132253903-132253904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189045079	chr8:132253960-132253961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376489798	chr8:132253977-132253978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543263753	chr8:132253993-132253994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561888672	chr8:132254042-132254043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182542670	chr8:132254044-132254045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142604636	chr8:132254052-132254053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559209677	chr8:132254092-132254093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146782613	chr8:132254093-132254094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139195877	chr8:132254112-132254113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574707166	chr8:132254124-132254125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11776815	chr8:132254182-132254183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531788119	chr8:132254245-132254246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550120592	chr8:132254263-132254264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368769302	chr8:132254275-132254276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568609103	chr8:132254282-132254283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143393189	chr8:132254283-132254284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535648069	chr8:132254330-132254331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548142985	chr8:132254341-132254342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543924946	chr8:132254361-132254362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539485641	chr8:132254368-132254369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557046122	chr8:132254372-132254373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557738393	chr8:132254374-132254375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187115041	chr8:132254375-132254376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564532330	chr8:132254384-132254385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114354418	chr8:132254404-132254405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529506499	chr8:132254425-132254426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555147912	chr8:132254426-132254427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190490672	chr8:132254445-132254446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143206389	chr8:132254474-132254475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559271656	chr8:132254500-132254501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559623939	chr8:132254518-132254519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531522631	chr8:132254570-132254571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577469964	chr8:132254670-132254671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150439938	chr8:132254707-132254708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180885526	chr8:132254732-132254733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369058341	chr8:132254753-132254754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531732198	chr8:132254791-132254792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138202585	chr8:132254829-132254830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536717535	chr8:132254860-132254861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75519802	chr8:132254882-132254883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529532177	chr8:132254933-132254934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184882395	chr8:132254963-132254964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566378853	chr8:132255149-132255150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533635487	chr8:132255160-132255161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549075973	chr8:132255184-132255185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190279205	chr8:132255214-132255215	Weak transcription	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132253800-132259000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132257400-132257800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:132258400-132259200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:132259000-132261800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:132260800-132261000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:132262000-132262600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:132262000-132262800	Enhancers	HMEC	breast
8	chr8:132262200-132262600	Enhancers	GM12878-XiMat	blood
9	chr8:132262600-132262800	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:132262600-132263400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
11	chr8:132262800-132263000	Active TSS	GM12878-XiMat	blood
12	chr8:132272600-132274600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:132273600-132274600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr8:132273600-132274800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:132281800-132282200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:132282200-132284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:132284000-132284200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:132284200-132289200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:132289200-132290000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:132290000-132301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:132290800-132292400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:132292400-132294800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:132294800-132295600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:132295600-132296800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:132297000-132297200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:132297000-132297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:132297600-132300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:132300600-132301200	Enhancers	HMEC	breast
29	chr8:132300800-132301000	Enhancers	Gastric	stomach
30	chr8:132300800-132301200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:132300800-132301200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:132300800-132301200	Enhancers	NH-A	brain
33	chr8:132300800-132302200	Enhancers	NHLF	lung
34	chr8:132300800-132303600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:132301200-132301400	Flanking Active TSS	NH-A	brain
36	chr8:132301200-132301600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:132301200-132301600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:132301200-132301600	Flanking Active TSS	HMEC	breast
39	chr8:132301400-132301600	Enhancers	NH-A	brain
40	chr8:132301400-132302800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:132301600-132301800	Flanking Active TSS	NH-A	brain
42	chr8:132301600-132302000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:132301600-132302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:132301600-132303400	Enhancers	HMEC	breast
45	chr8:132301800-132302200	Enhancers	Fetal Intestine Large	intestine
46	chr8:132301800-132302200	Enhancers	NH-A	brain
47	chr8:132301800-132303200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:132301800-132303400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:132301800-132304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:132302400-132307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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