Variant report

Variant	nsv818719
Chromosome Location	chr9:118567019-118571428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9696301	chr9:118567019-118567020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553740339	chr9:118567053-118567054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539411831	chr9:118567066-118567067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577014636	chr9:118567078-118567079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372680591	chr9:118567170-118567171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552124986	chr9:118567171-118567172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113369651	chr9:118567188-118567189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201186842	chr9:118567189-118567190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7857222	chr9:118567190-118567191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200919641	chr9:118567192-118567193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9696907	chr9:118567251-118567252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539247714	chr9:118567255-118567256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550253515	chr9:118567266-118567267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574702885	chr9:118567275-118567276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575828106	chr9:118567309-118567310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544681465	chr9:118567315-118567316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143238368	chr9:118567388-118567389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35459431	chr9:118567392-118567393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571180495	chr9:118567409-118567410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561273361	chr9:118567410-118567411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142116570	chr9:118567441-118567442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112275699	chr9:118567454-118567455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540968173	chr9:118567455-118567456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560613468	chr9:118567463-118567464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371489254	chr9:118567466-118567467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13291904	chr9:118567467-118567468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552472231	chr9:118567468-118567469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147210857	chr9:118567472-118567473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200243116	chr9:118567473-118567474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77028695	chr9:118567474-118567475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375048344	chr9:118567475-118567476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115619681	chr9:118567558-118567559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547840703	chr9:118567624-118567625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567721465	chr9:118567677-118567678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533553481	chr9:118567729-118567730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547712349	chr9:118567734-118567735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538503550	chr9:118567744-118567745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151136483	chr9:118567766-118567767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539648402	chr9:118567782-118567783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7867824	chr9:118567784-118567785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139475367	chr9:118567791-118567792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145061244	chr9:118567795-118567796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190991233	chr9:118567805-118567806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574926665	chr9:118567822-118567823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147950225	chr9:118567850-118567851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141905818	chr9:118567866-118567867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577487773	chr9:118567885-118567886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546443114	chr9:118567901-118567902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562753828	chr9:118567925-118567926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56900299	chr9:118567934-118567935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118566800-118585800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:118567000-118586200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:118569800-118571200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:118570000-118570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:118570200-118571000	Enhancers	Hela-S3	cervix
6	chr9:118570400-118571000	Enhancers	Liver	Liver
7	chr9:118570400-118571200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:118570400-118572600	Enhancers	HMEC	breast
9	chr9:118570400-118573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:118570600-118570800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:118570600-118571200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr9:118570600-118571600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:118570600-118571600	Enhancers	Osteobl	bone
14	chr9:118570600-118572600	Enhancers	NHEK	skin
15	chr9:118570800-118571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:118570800-118571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:118570800-118571600	Enhancers	A549	lung
18	chr9:118570800-118571600	Enhancers	NHLF	lung
19	chr9:118570800-118572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:118571000-118571200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:118571000-118571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:118571200-118571800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:118571400-118571800	Enhancers	NHDF-Ad	bronchial

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