Variant report

Variant	nsv6642
Chromosome Location	chr9:104385959-104398737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104387846..104390209-chr9:107506903..107509823,2	K562	blood:

Extended variants
information (count: 527 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574676972	chr9:104385973-104385974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376897523	chr9:104385986-104385987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142394965	chr9:104386011-104386012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143300705	chr9:104386012-104386013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10115481	chr9:104386022-104386023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs190045123	chr9:104386038-104386039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111755868	chr9:104386057-104386058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10114871	chr9:104386063-104386064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13293846	chr9:104386080-104386081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541505128	chr9:104386082-104386083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183036946	chr9:104386089-104386090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530183400	chr9:104386117-104386118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74877747	chr9:104386121-104386122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567749602	chr9:104386166-104386167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371711147	chr9:104386185-104386186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552624879	chr9:104386202-104386203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565670649	chr9:104386234-104386235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534363525	chr9:104386246-104386247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554609633	chr9:104386252-104386253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376750763	chr9:104386284-104386285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10115569	chr9:104386327-104386328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10117667	chr9:104386378-104386379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557210123	chr9:104386413-104386414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185863843	chr9:104386415-104386416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148332234	chr9:104386428-104386429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553031950	chr9:104386450-104386451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190323493	chr9:104386485-104386486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199699490	chr9:104386487-104386488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541066869	chr9:104386491-104386492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369053117	chr9:104386504-104386505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561017555	chr9:104386654-104386655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574606975	chr9:104386658-104386659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28503845	chr9:104386659-104386660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543546637	chr9:104386670-104386671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563520243	chr9:104386698-104386699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34246676	chr9:104386729-104386730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532617704	chr9:104386737-104386738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62577422	chr9:104386748-104386749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62577423	chr9:104386752-104386753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62577424	chr9:104386770-104386771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62577425	chr9:104386776-104386777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35637526	chr9:104386816-104386817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62577426	chr9:104386824-104386825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559805939	chr9:104386898-104386899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528041895	chr9:104386904-104386905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547900409	chr9:104386968-104386969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568129599	chr9:104386985-104386986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28485086	chr9:104387005-104387006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188657614	chr9:104387032-104387033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574687861	chr9:104387042-104387043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104362000-104387400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:104382400-104392200	Weak transcription	Liver	Liver
3	chr9:104386000-104386400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:104387600-104388200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr9:104387600-104388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:104387600-104388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:104387600-104389400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:104387600-104390400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:104387800-104390400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr9:104388000-104388600	Enhancers	Primary hematopoietic stem cells	blood
11	chr9:104388000-104389000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:104388000-104389400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr9:104388200-104389600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr9:104388400-104389400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:104388600-104388800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:104388600-104389000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:104388800-104389400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:104389000-104390400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:104389600-104390400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:104390400-104391600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:104390400-104392000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr9:104391600-104391800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr9:104391800-104392200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr9:104392000-104392600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr9:104392200-104393000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr9:104392200-104394600	Enhancers	Liver	Liver
27	chr9:104392400-104393000	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:104392600-104398000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr9:104392800-104393200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr9:104392800-104393400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:104393000-104398000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr9:104394600-104397600	Weak transcription	Liver	Liver
33	chr9:104397200-104397800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:104397600-104398200	Enhancers	Liver	Liver
35	chr9:104398000-104399200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr9:104398000-104399200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr9:104398200-104399000	Weak transcription	Liver	Liver

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