Variant report

Variant	nsv516266
Chromosome Location	chr9:94458669-94476418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94186298..94187810-chr9:94475229..94478202,2	MCF-7	breast:
2	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:
3	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:
4	chr9:94444042..94444597-chr9:94475780..94476737,2	MCF-7	breast:
5	chr9:94474813..94478609-chr9:94479157..94482495,5	K562	blood:
6	chr8:144976748..144977249-chr9:94459138..94459897,2	MCF-7	breast:

Extended variants
information (count: 657 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12348947	chr9:94458669-94458670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185552302	chr9:94458735-94458736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552991683	chr9:94458751-94458752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560370048	chr9:94458792-94458793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542370037	chr9:94458826-94458827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143787296	chr9:94458854-94458855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201817051	chr9:94458855-94458856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12344122	chr9:94458856-94458857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574569841	chr9:94458863-94458864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9409646	chr9:94458868-94458869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9409647	chr9:94458870-94458871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373321102	chr9:94458871-94458872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10992055	chr9:94458890-94458891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555143105	chr9:94458901-94458902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557177687	chr9:94458905-94458906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368449899	chr9:94458944-94458945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1201036	chr9:94458972-94458973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550943454	chr9:94459021-94459022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549274149	chr9:94459061-94459062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12347291	chr9:94459063-94459064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540388971	chr9:94459067-94459068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562182079	chr9:94459072-94459073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35230837	chr9:94459106-94459107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529323743	chr9:94459147-94459148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533452845	chr9:94459149-94459150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376112891	chr9:94459186-94459187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113070795	chr9:94459191-94459192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562733428	chr9:94459242-94459243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181685309	chr9:94459291-94459292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547211023	chr9:94459323-94459324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533491977	chr9:94459348-94459349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185744582	chr9:94459359-94459360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138566640	chr9:94459360-94459361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188990331	chr9:94459378-94459379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546258293	chr9:94459390-94459391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568182092	chr9:94459413-94459414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77670730	chr9:94459522-94459523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557242865	chr9:94459527-94459528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575465840	chr9:94459531-94459532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539755849	chr9:94459533-94459534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535998348	chr9:94459540-94459541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557999728	chr9:94459541-94459542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13297566	chr9:94459556-94459557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540648343	chr9:94459557-94459558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561915735	chr9:94459559-94459560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75751895	chr9:94459572-94459573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371665407	chr9:94459622-94459623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60473471	chr9:94459633-94459634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544296990	chr9:94459637-94459638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181049386	chr9:94459645-94459646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94444200-94461400	Weak transcription	Right Atrium	heart
2	chr9:94453400-94463600	Weak transcription	Fetal Stomach	stomach
3	chr9:94454000-94468200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:94456600-94460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:94456600-94460400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:94456600-94462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:94456800-94459400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:94458000-94459600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:94458000-94459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:94458000-94473400	Weak transcription	Gastric	stomach
11	chr9:94458000-94489800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:94459600-94460000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:94459800-94460600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:94460000-94460400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:94460200-94461000	Enhancers	GM12878-XiMat	blood
16	chr9:94462400-94463000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:94462600-94463000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:94463000-94465200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:94467600-94474000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:94468000-94474200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:94468200-94468600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
22	chr9:94468400-94469600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:94468600-94469400	ZNF genes & repeats	Fetal Stomach	stomach
24	chr9:94468600-94469400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:94468600-94469600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:94468800-94469400	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr9:94469400-94472400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:94469400-94476600	Weak transcription	Colonic Mucosa	Colon
29	chr9:94469400-94476600	Weak transcription	Fetal Stomach	stomach
30	chr9:94469600-94474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:94469600-94474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:94472200-94472600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:94472200-94472800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:94472200-94473200	Weak transcription	K562	blood
35	chr9:94472200-94476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:94472400-94473000	Enhancers	Primary B cells from cord blood	blood
37	chr9:94472400-94473400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr9:94472400-94474200	Weak transcription	Fetal Brain Male	brain
39	chr9:94472400-94476800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr9:94472600-94473000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:94472600-94473200	Active TSS	Fetal Kidney	kidney
42	chr9:94472800-94473200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:94472800-94473400	Enhancers	Primary hematopoietic stem cells	blood
44	chr9:94472800-94474200	Enhancers	GM12878-XiMat	blood
45	chr9:94472800-94476600	Enhancers	Primary B cells from peripheral blood	blood
46	chr9:94473000-94474200	Weak transcription	Primary B cells from cord blood	blood
47	chr9:94473000-94476600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:94473200-94473400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:94473200-94473400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:94473200-94473400	Flanking Active TSS	Fetal Kidney	kidney

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