Variant report

Variant	nsv1024860
Chromosome Location	chr9:11408052-11577278
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	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:
2	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 3807 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3807 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530485658	chr9:11413201-11413202	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550769451	chr9:11413218-11413219	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567471559	chr9:11413219-11413220	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536592032	chr9:11413235-11413236	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs553381568	chr9:11413295-11413296	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566892393	chr9:11413316-11413317	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538634151	chr9:11413342-11413343	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147756008	chr9:11413348-11413349	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372818247	chr9:11413349-11413350	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575825759	chr9:11413353-11413354	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112061456	chr9:11413359-11413360	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557196109	chr9:11413360-11413361	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573877865	chr9:11413361-11413362	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192110049	chr9:11413365-11413366	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183904202	chr9:11413367-11413368	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187660749	chr9:11413369-11413370	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544692703	chr9:11413432-11413433	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142598286	chr9:11413444-11413445	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2105055	chr9:11413458-11413459	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550255886	chr9:11413459-11413460	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112036813	chr9:11413469-11413470	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146772128	chr9:11413489-11413490	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547299615	chr9:11413509-11413510	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2095486	chr9:11413520-11413521	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371969199	chr9:11413521-11413522	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539286040	chr9:11413550-11413551	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559052626	chr9:11413607-11413608	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs3939456	chr9:11413608-11413609	Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569229781	chr9:11413611-11413612	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538389503	chr9:11413648-11413649	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555093879	chr9:11413658-11413659	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544925732	chr9:11413687-11413688	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs35686532	chr9:11413690-11413691	Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542437894	chr9:11413742-11413743	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553106346	chr9:11413773-11413774	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573061620	chr9:11413809-11413810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139217955	chr9:11413818-11413819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564772534	chr9:11413867-11413868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530607543	chr9:11413872-11413873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574882386	chr9:11413907-11413908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs543937759	chr9:11414025-11414026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4317672	chr9:11414026-11414027	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4570263	chr9:11414092-11414093	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546892248	chr9:11414104-11414105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs1577437	chr9:11414134-11414135	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1577436	chr9:11414180-11414181	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs552832900	chr9:11414204-11414205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542994986	chr9:11414212-11414213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114089355	chr9:11414223-11414224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192580710	chr9:11414231-11414232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11413200-11413600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:11413200-11414600	ZNF genes & repeats	Spleen	Spleen
3	chr9:11413600-11413800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:11413600-11414000	ZNF genes & repeats	Pancreas	Pancrea
5	chr9:11414000-11421000	Weak transcription	Pancreas	Pancrea
6	chr9:11416800-11418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:11417800-11425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:11425800-11426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:11426200-11426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:11426600-11431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:11427600-11428800	Enhancers	Fetal Heart	heart
12	chr9:11428800-11429200	Weak transcription	Fetal Heart	heart
13	chr9:11429200-11429400	Enhancers	Fetal Heart	heart
14	chr9:11429400-11432400	Weak transcription	Fetal Heart	heart
15	chr9:11431400-11431800	Enhancers	Fetal Brain Male	brain
16	chr9:11431600-11431800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:11431800-11432400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:11432200-11432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:11432400-11434200	Enhancers	Fetal Heart	heart
20	chr9:11433400-11433800	Active TSS	Right Atrium	heart
21	chr9:11434200-11434600	Weak transcription	Fetal Heart	heart
22	chr9:11434600-11435600	Enhancers	Fetal Heart	heart
23	chr9:11447600-11448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:11451600-11451800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:11452000-11452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:11455000-11455200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr9:11455200-11457200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:11456000-11456400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:11456400-11456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:11456400-11458800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:11456600-11457400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:11456600-11457400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:11456800-11457000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:11456800-11457000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:11456800-11457200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:11457000-11457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:11457000-11458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:11457000-11458000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:11457000-11458800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:11457200-11457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:11457200-11457400	Enhancers	Fetal Brain Female	brain
42	chr9:11457200-11457400	Enhancers	Fetal Kidney	kidney
43	chr9:11457200-11457400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr9:11457200-11457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:11457200-11457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:11457200-11457800	Enhancers	Fetal Brain Male	brain
47	chr9:11457200-11458000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:11457200-11458600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:11457200-11459000	Enhancers	Fetal Heart	heart
50	chr9:11457400-11457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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