Variant report

Variant	nsv824847
Chromosome Location	chr9:9255377-9378016
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	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
2	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:

Extended variants
information (count: 1535 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1535 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144912234	chr9:9256034-9256035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185158365	chr9:9256057-9256058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190352358	chr9:9256069-9256070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543968483	chr9:9256092-9256093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562365613	chr9:9256136-9256137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578134942	chr9:9256143-9256144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547990089	chr9:9256157-9256158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532536764	chr9:9256180-9256181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149103546	chr9:9256189-9256190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143197629	chr9:9256205-9256206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571956916	chr9:9256210-9256211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73641278	chr9:9256264-9256265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147812282	chr9:9256267-9256268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182037943	chr9:9256272-9256273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536888698	chr9:9256309-9256310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79849173	chr9:9256376-9256377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566982569	chr9:9256387-9256388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533925006	chr9:9256399-9256400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535599969	chr9:9256401-9256402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529501463	chr9:9256408-9256409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558542545	chr9:9256462-9256463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576697694	chr9:9256478-9256479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141342022	chr9:9256490-9256491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75498167	chr9:9256507-9256508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4628307	chr9:9256524-9256525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569197682	chr9:9256528-9256529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114815779	chr9:9256539-9256540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558917987	chr9:9256544-9256545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536230951	chr9:9256545-9256546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527418861	chr9:9256556-9256557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74847042	chr9:9256562-9256563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564094913	chr9:9256580-9256581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532812784	chr9:9256603-9256604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116650538	chr9:9256608-9256609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569578461	chr9:9256634-9256635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187470729	chr9:9256638-9256639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551444028	chr9:9256653-9256654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189599662	chr9:9256775-9256776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571222658	chr9:9256780-9256781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75042424	chr9:9256803-9256804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180848216	chr9:9256821-9256822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534048517	chr9:9256851-9256852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143137073	chr9:9256905-9256906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201711114	chr9:9256932-9256933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570522734	chr9:9256948-9256949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537889422	chr9:9256950-9256951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114669237	chr9:9256958-9256959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115127644	chr9:9256974-9256975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141487698	chr9:9260251-9260252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572814243	chr9:9260253-9260254	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9256000-9257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:9260200-9260600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:9270200-9270600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:9283600-9284400	Enhancers	Fetal Kidney	kidney
5	chr9:9305800-9306000	Enhancers	Fetal Stomach	stomach
6	chr9:9306400-9307400	Weak transcription	Fetal Stomach	stomach
7	chr9:9307200-9309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:9307400-9308000	Enhancers	Fetal Stomach	stomach
9	chr9:9307800-9308600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:9309800-9310400	Enhancers	Fetal Heart	heart
11	chr9:9309800-9311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:9310200-9310800	Enhancers	Pancreas	Pancrea
13	chr9:9310400-9310600	Enhancers	Stomach Mucosa	stomach
14	chr9:9311200-9311600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:9311400-9311600	Enhancers	Stomach Mucosa	stomach
16	chr9:9311600-9313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:9313400-9313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:9317400-9319600	Enhancers	Stomach Mucosa	stomach
19	chr9:9318400-9319400	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:9318600-9318800	Enhancers	Brain Angular Gyrus	brain
21	chr9:9318600-9319000	Enhancers	Brain Anterior Caudate	brain
22	chr9:9318800-9319000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:9318800-9319000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:9318800-9319200	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr9:9318800-9319200	Enhancers	Brain Hippocampus Middle	brain
26	chr9:9318800-9319200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:9318800-9319400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr9:9318800-9319400	Enhancers	Fetal Kidney	kidney
29	chr9:9318800-9319400	Enhancers	Fetal Lung	lung
30	chr9:9318800-9319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:9319000-9319200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr9:9319000-9319400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr9:9319000-9319400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr9:9319200-9319400	Active TSS	Brain Anterior Caudate	brain
35	chr9:9319200-9319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:9319200-9319800	Enhancers	Brain Angular Gyrus	brain
37	chr9:9326000-9327600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:9326600-9327200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:9327000-9327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:9327200-9331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:9327200-9331600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:9327600-9329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:9329600-9330400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:9329600-9331800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:9329800-9330000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:9329800-9330200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:9329800-9330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr9:9329800-9330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:9329800-9333400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:9330000-9330200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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