Variant report

Variant	esv3324472
Chromosome Location	chr9:117595211-117598982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374127487	chr9:117595325-117595326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546184915	chr9:117595353-117595354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560234552	chr9:117595392-117595393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562621187	chr9:117595526-117595527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76122810	chr9:117595602-117595603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35082832	chr9:117595683-117595684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552350699	chr9:117595698-117595699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6478110	chr9:117595728-117595729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10982419	chr9:117595770-117595771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189143251	chr9:117595793-117595794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560449127	chr9:117595899-117595900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180674061	chr9:117595907-117595908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138786251	chr9:117595920-117595921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575032738	chr9:117595928-117595929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527693813	chr9:117595953-117595954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140931749	chr9:117595963-117595964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377139731	chr9:117595987-117595988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553054131	chr9:117595991-117595992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573291515	chr9:117596026-117596027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76966576	chr9:117596060-117596061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559119033	chr9:117596134-117596135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6478111	chr9:117596180-117596181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544374912	chr9:117596197-117596198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561293064	chr9:117596216-117596217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574782790	chr9:117596227-117596228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142049493	chr9:117596247-117596248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145672779	chr9:117596300-117596301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532251696	chr9:117596304-117596305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552021905	chr9:117596314-117596315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562582397	chr9:117596320-117596321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386737874	chr9:117596350-117596351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1853187	chr9:117596352-117596353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190885525	chr9:117596369-117596370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550032590	chr9:117596430-117596431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183459243	chr9:117596439-117596440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138046202	chr9:117596450-117596451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149504318	chr9:117596542-117596543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566716367	chr9:117596563-117596564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539005874	chr9:117596577-117596578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558809012	chr9:117596582-117596583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575328407	chr9:117596593-117596594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186008515	chr9:117596616-117596617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554701433	chr9:117596698-117596699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568220469	chr9:117596757-117596758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144187516	chr9:117596818-117596819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148689902	chr9:117596838-117596839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554431916	chr9:117596862-117596863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72756550	chr9:117596872-117596873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545781658	chr9:117596882-117596883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562616129	chr9:117596904-117596905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117593000-117600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:117593000-117600200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:117593200-117596600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr9:117593200-117596600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:117593200-117598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:117596600-117597800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:117596600-117598000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:117598000-117598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:117598000-117598800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:117598000-117599200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:117598400-117598600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:117598400-117598600	Weak transcription	Pancreas	Pancrea
13	chr9:117598400-117598800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:117598600-117598800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:117598800-117599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:117598800-117602000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:117598800-117602000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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