Variant report

Variant	nsv466185
Chromosome Location	chr9:11440880-11561385
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	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:
2	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 2290 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2290 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544670506	chr9:11447685-11447686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10959821	chr9:11447721-11447722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575781069	chr9:11447722-11447723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10959822	chr9:11447736-11447737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147234337	chr9:11447758-11447759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10959823	chr9:11447799-11447800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567875695	chr9:11447813-11447814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs970362	chr9:11447857-11447858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547321435	chr9:11447886-11447887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572478303	chr9:11447890-11447891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141034863	chr9:11447916-11447917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539069155	chr9:11447944-11447945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149843745	chr9:11447992-11447993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569367544	chr9:11447996-11447997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534757468	chr9:11448002-11448003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557867179	chr9:11448065-11448066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs970361	chr9:11448077-11448078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576933014	chr9:11448082-11448083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs970360	chr9:11448094-11448095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs377051320	chr9:11448113-11448114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542371326	chr9:11448127-11448128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553271704	chr9:11448155-11448156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189220881	chr9:11448164-11448165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545017953	chr9:11448180-11448181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564714180	chr9:11448184-11448185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573853912	chr9:11448199-11448200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544345989	chr9:11448202-11448203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145853208	chr9:11448211-11448212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193093727	chr9:11448212-11448213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79959037	chr9:11448238-11448239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184486530	chr9:11448240-11448241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74830344	chr9:11448251-11448252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188123217	chr9:11448308-11448309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532677320	chr9:11448328-11448329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552802179	chr9:11448330-11448331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371734490	chr9:11448388-11448389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7028606	chr9:11451603-11451604	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571889753	chr9:11451642-11451643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562381784	chr9:11451677-11451678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148835188	chr9:11451681-11451682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs143443787	chr9:11451718-11451719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs550436682	chr9:11451748-11451749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567950970	chr9:11451763-11451764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559101820	chr9:11452017-11452018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185334545	chr9:11452033-11452034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56056325	chr9:11452034-11452035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544779898	chr9:11452037-11452038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370879597	chr9:11452039-11452040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189863354	chr9:11452062-11452063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531171984	chr9:11452063-11452064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
abnormal development	18461090	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
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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11447600-11448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:11451600-11451800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:11452000-11452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:11455000-11455200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr9:11455200-11457200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:11456000-11456400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:11456400-11456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:11456400-11458800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:11456600-11457400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:11456600-11457400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:11456800-11457000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:11456800-11457000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:11456800-11457200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:11457000-11457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:11457000-11458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:11457000-11458000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:11457000-11458800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:11457200-11457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:11457200-11457400	Enhancers	Fetal Brain Female	brain
20	chr9:11457200-11457400	Enhancers	Fetal Kidney	kidney
21	chr9:11457200-11457400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr9:11457200-11457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:11457200-11457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:11457200-11457800	Enhancers	Fetal Brain Male	brain
25	chr9:11457200-11458000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:11457200-11458600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:11457200-11459000	Enhancers	Fetal Heart	heart
28	chr9:11457400-11457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:11457400-11458000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:11457400-11458000	Weak transcription	Fetal Kidney	kidney
31	chr9:11457400-11458200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:11457400-11458200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:11457400-11458400	Weak transcription	Fetal Brain Female	brain
34	chr9:11457600-11458000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:11457600-11458600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:11457800-11458200	Weak transcription	Fetal Brain Male	brain
37	chr9:11457800-11459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:11458000-11458200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:11458000-11458600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:11458000-11458600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:11458000-11458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:11458000-11458800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr9:11458000-11458800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:11458000-11458800	Enhancers	Fetal Kidney	kidney
45	chr9:11458000-11459000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:11458000-11459000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:11458200-11458400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr9:11458200-11458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:11458200-11458600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr9:11458200-11458800	Enhancers	H1 Cell Line	embryonic stem cell

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