Variant report

Variant	esv1956616
Chromosome Location	chr9:104219535-104220567
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	chr9:104220056..104222734-chr9:104292272..104293989,2	K562	blood:
2	chr9:104219436..104220096-chr9:104292310..104293060,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185540832	chr9:104219536-104219537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558506159	chr9:104219541-104219542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190445916	chr9:104219567-104219568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541175980	chr9:104219596-104219597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577626444	chr9:104219615-104219616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10989512	chr9:104219621-104219622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560971000	chr9:104219652-104219653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574546451	chr9:104219666-104219667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369768785	chr9:104219698-104219699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4592100	chr9:104219700-104219701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116276594	chr9:104219701-104219702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10989513	chr9:104219823-104219824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563269181	chr9:104219834-104219835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113596555	chr9:104219966-104219967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572187819	chr9:104219990-104219991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142921349	chr9:104220030-104220031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559734979	chr9:104220094-104220095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192354855	chr9:104220116-104220117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146355985	chr9:104220263-104220264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370017811	chr9:104220366-104220367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373896656	chr9:104220367-104220368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376302038	chr9:104220370-104220371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369130933	chr9:104220375-104220376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201743086	chr9:104220378-104220379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568223410	chr9:104220391-104220392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10989514	chr9:104220414-104220415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563051091	chr9:104220433-104220434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550720133	chr9:104220460-104220461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113741982	chr9:104220469-104220470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570809915	chr9:104220470-104220471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544496849	chr9:104220494-104220495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55934101	chr9:104220511-104220512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572324833	chr9:104220546-104220547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532970491	chr9:104220559-104220560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104221200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:104216800-104219600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:104216800-104220400	Weak transcription	Fetal Intestine Large	intestine
5	chr9:104217000-104227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:104218200-104222000	Enhancers	HepG2	liver
7	chr9:104218200-104223000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:104218600-104220000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:104218600-104228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:104218800-104219600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:104218800-104219600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:104218800-104223400	Weak transcription	NH-A	brain
13	chr9:104219000-104219600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr9:104219000-104219600	Enhancers	Liver	Liver
15	chr9:104219000-104220000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:104219000-104221800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:104219200-104219800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:104219200-104220600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:104219400-104219600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:104219400-104219600	Enhancers	Adipose Nuclei	Adipose
21	chr9:104219600-104220200	Weak transcription	Liver	Liver
22	chr9:104219600-104220600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:104219600-104220600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:104219600-104220600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:104219600-104220600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:104219600-104220600	Weak transcription	Adipose Nuclei	Adipose
27	chr9:104219600-104220800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:104219800-104220200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:104220000-104220400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:104220000-104220600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:104220200-104221200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:104220200-104221400	Enhancers	Liver	Liver
33	chr9:104220400-104221400	Enhancers	Fetal Intestine Large	intestine
34	chr9:104220400-104221800	Enhancers	HUES64 Cell Line	embryonic stem cell

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