Variant report

Variant	nsv614606
Chromosome Location	chr9:73907625-73936166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73934367..73936827-chr9:73939722..73941307,2	K562	blood:
2	chr9:73934494..73936827-chr9:73938162..73941222,3	K562	blood:
3	chr20:54964786..54966416-chr9:73917001..73919817,2	MCF-7	breast:

Extended variants
information (count: 573 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11142786	chr9:73907625-73907626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76370303	chr9:73907690-73907691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532569114	chr9:73907704-73907705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552553725	chr9:73907767-73907768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559985015	chr9:73907819-73907820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184791546	chr9:73907924-73907925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188108871	chr9:73907931-73907932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533955065	chr9:73907957-73907958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567166589	chr9:73907962-73907963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529786922	chr9:73907966-73907967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117161305	chr9:73907981-73907982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7852944	chr9:73907995-73907996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147500231	chr9:73908058-73908059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574251884	chr9:73908078-73908079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148022381	chr9:73908083-73908084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368185409	chr9:73908098-73908099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2062865	chr9:73908156-73908157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140090841	chr9:73908166-73908167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563119657	chr9:73908234-73908235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12378617	chr9:73908243-73908244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184672219	chr9:73908284-73908285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75533623	chr9:73908290-73908291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543466825	chr9:73908345-73908346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75608652	chr9:73908346-73908347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576965942	chr9:73908364-73908365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12380030	chr9:73908387-73908388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13290117	chr9:73908412-73908413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373460204	chr9:73908416-73908417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542180144	chr9:73908448-73908449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560818866	chr9:73908449-73908450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529722090	chr9:73908477-73908478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10081739	chr9:73908511-73908512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72124710	chr9:73908523-73908524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560277827	chr9:73908588-73908589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566230209	chr9:73908592-73908593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532133430	chr9:73908655-73908656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560348688	chr9:73908789-73908790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576926212	chr9:73908799-73908800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150049577	chr9:73908800-73908801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11142787	chr9:73908824-73908825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11142788	chr9:73908837-73908838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115186470	chr9:73908859-73908860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113195203	chr9:73908890-73908891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79622869	chr9:73908983-73908984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571426919	chr9:73908984-73908985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113597558	chr9:73908986-73908987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189086220	chr9:73909051-73909052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576905208	chr9:73909085-73909086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148806599	chr9:73909094-73909095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553503057	chr9:73909102-73909103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73907600-73908000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:73908000-73909400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:73909400-73910000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:73909600-73910200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:73910000-73911000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:73911000-73911200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:73915200-73915800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:73915400-73916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:73916000-73916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:73916200-73917200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:73917200-73917800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:73917200-73918400	Enhancers	NHDF-Ad	bronchial
13	chr9:73917600-73917800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:73917800-73918000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:73917800-73918200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:73917800-73918200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:73917800-73918600	Enhancers	Osteobl	bone
18	chr9:73918000-73918200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:73918000-73918200	Enhancers	GM12878-XiMat	blood
20	chr9:73918000-73918400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:73918200-73919400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:73918200-73923600	Weak transcription	GM12878-XiMat	blood
23	chr9:73918600-73920400	Weak transcription	Osteobl	bone
24	chr9:73923600-73924000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:73923600-73924000	Enhancers	GM12878-XiMat	blood
26	chr9:73925600-73926400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:73935600-73936000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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