Variant report

Variant	nsv1042871
Chromosome Location	chr9:73912684-73941288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73934494..73936827-chr9:73938162..73941222,3	K562	blood:
2	chr9:73934367..73936827-chr9:73939722..73941307,2	K562	blood:
3	chr9:73938978..73941797-chr9:73943749..73946364,2	K562	blood:
4	chr9:73934367..73936827-chr9:73939722..73941307,2	K562	blood:
5	chr20:54964786..54966416-chr9:73917001..73919817,2	MCF-7	breast:
6	chr9:73934494..73936827-chr9:73938162..73941222,3	K562	blood:

Extended variants
information (count: 439 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544932801	chr9:73915230-73915231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574491408	chr9:73915243-73915244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75455492	chr9:73915284-73915285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1394308	chr9:73915294-73915295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111447762	chr9:73915295-73915296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369600677	chr9:73915346-73915347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372159182	chr9:73915403-73915404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527463452	chr9:73915427-73915428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541245089	chr9:73915428-73915429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200428173	chr9:73915429-73915430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187116366	chr9:73915452-73915453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76309453	chr9:73915455-73915456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528344792	chr9:73915457-73915458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548083174	chr9:73915465-73915466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568073476	chr9:73915477-73915478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376456456	chr9:73915489-73915490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191445641	chr9:73915520-73915521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1394309	chr9:73915535-73915536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73649715	chr9:73915557-73915558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576649836	chr9:73915606-73915607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567073007	chr9:73915615-73915616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79667175	chr9:73915623-73915624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141444175	chr9:73915640-73915641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183355068	chr9:73915666-73915667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186836537	chr9:73915674-73915675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543026849	chr9:73915676-73915677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191314281	chr9:73915699-73915700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576831531	chr9:73915701-73915702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145809330	chr9:73915723-73915724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386734894	chr9:73915762-73915763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61007272	chr9:73915763-73915764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138710554	chr9:73915823-73915824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386734895	chr9:73915881-73915882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1566837	chr9:73915883-73915884	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs532837757	chr9:73915889-73915890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374041449	chr9:73915916-73915917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80273325	chr9:73915934-73915935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550665776	chr9:73915935-73915936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143324363	chr9:73915938-73915939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564578929	chr9:73915953-73915954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111236805	chr9:73915967-73915968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182333643	chr9:73915987-73915988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577181703	chr9:73915992-73915993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78063320	chr9:73916002-73916003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567009533	chr9:73916034-73916035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186636563	chr9:73916053-73916054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556022682	chr9:73916065-73916066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1566838	chr9:73916072-73916073	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs117907025	chr9:73916096-73916097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61520206	chr9:73916105-73916106	Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73915200-73915800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr9:73915400-73916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:73916000-73916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:73916200-73917200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:73917200-73917800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:73917200-73918400	Enhancers	NHDF-Ad	bronchial
7	chr9:73917600-73917800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:73917800-73918000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:73917800-73918200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:73917800-73918200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:73917800-73918600	Enhancers	Osteobl	bone
12	chr9:73918000-73918200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:73918000-73918200	Enhancers	GM12878-XiMat	blood
14	chr9:73918000-73918400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:73918200-73919400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:73918200-73923600	Weak transcription	GM12878-XiMat	blood
17	chr9:73918600-73920400	Weak transcription	Osteobl	bone
18	chr9:73923600-73924000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:73923600-73924000	Enhancers	GM12878-XiMat	blood
20	chr9:73925600-73926400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:73935600-73936000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:73941200-73942000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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