Variant report

Variant	nsv466136
Chromosome Location	chr9:9538589-9605832
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	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:

Extended variants
information (count: 800 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs625165	chr9:9538589-9538590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543477425	chr9:9538599-9538600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190654658	chr9:9538649-9538650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369101243	chr9:9538740-9538741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367588099	chr9:9538760-9538761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371725958	chr9:9538761-9538762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116424995	chr9:9538771-9538772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs625517	chr9:9538820-9538821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs625900	chr9:9538867-9538868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142238711	chr9:9538924-9538925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs626307	chr9:9538961-9538962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560582640	chr9:9538964-9538965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551549900	chr9:9538966-9538967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375514809	chr9:9538987-9538988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531849545	chr9:9538996-9538997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs626391	chr9:9539032-9539033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557189376	chr9:9539035-9539036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180767520	chr9:9539041-9539042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535888145	chr9:9539101-9539102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371453253	chr9:9539103-9539104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs626804	chr9:9539114-9539115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535846187	chr9:9539122-9539123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78370935	chr9:9539155-9539156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs612092	chr9:9539164-9539165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112457493	chr9:9539198-9539199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs627247	chr9:9539218-9539219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184544336	chr9:9539224-9539225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555486850	chr9:9539233-9539234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573634603	chr9:9539266-9539267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541057785	chr9:9539311-9539312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559358999	chr9:9539324-9539325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146397390	chr9:9539335-9539336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148128155	chr9:9539347-9539348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189320477	chr9:9539353-9539354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531979284	chr9:9539366-9539367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs628077	chr9:9539367-9539368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141958579	chr9:9539422-9539423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199825565	chr9:9539486-9539487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs639168	chr9:9539574-9539575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547783466	chr9:9539590-9539591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181620482	chr9:9540409-9540410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567304797	chr9:9540472-9540473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16929716	chr9:9540483-9540484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567843225	chr9:9540533-9540534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1326769	chr9:9540555-9540556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs139465220	chr9:9540597-9540598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16929717	chr9:9540610-9540611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556979019	chr9:9540636-9540637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367723106	chr9:9540641-9540642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576687195	chr9:9540657-9540658	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9538200-9539200	Weak transcription	Fetal Brain Male	brain
2	chr9:9538200-9539200	Weak transcription	Fetal Brain Female	brain
3	chr9:9539200-9539400	Enhancers	Fetal Brain Female	brain
4	chr9:9539200-9539600	Enhancers	Fetal Brain Male	brain
5	chr9:9540400-9541600	Enhancers	Dnd41	blood
6	chr9:9541200-9541600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:9547400-9547600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:9551800-9552000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:9552000-9552800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:9552000-9553000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:9552000-9556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:9552600-9552800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:9552800-9556200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:9552800-9556600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:9553000-9556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:9554200-9554800	Enhancers	Fetal Kidney	kidney
17	chr9:9556000-9556800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:9556200-9556400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:9556200-9556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:9556200-9556400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:9556200-9556800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:9556200-9559000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:9556400-9556800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:9556400-9556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:9556400-9557200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr9:9556400-9558000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr9:9556400-9558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:9556600-9556800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:9556600-9557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:9556800-9557000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr9:9556800-9557200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr9:9556800-9557200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr9:9556800-9557200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr9:9556800-9557200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr9:9557000-9557200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:9557000-9557600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr9:9557000-9557600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:9557000-9557800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr9:9557200-9557600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr9:9557200-9557600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr9:9557200-9557600	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr9:9557200-9557800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:9557200-9557800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr9:9557200-9558000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:9557200-9558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:9557600-9558000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:9557600-9558000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr9:9557600-9558000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr9:9557600-9558000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr9:9557600-9558600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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