Variant report

Variant	nsv1031269
Chromosome Location	chr9:17204320-17316969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59651978..59652576-chr9:17247861..17248361,2	MCF-7	breast:
2	chr9:17219155..17220052-chr9:17401883..17402825,5	MCF-7	breast:
3	chr9:17219048..17219921-chr9:17462587..17463121,2	MCF-7	breast:
4	chr9:17219375..17219930-chr9:17402045..17403347,3	MCF-7	breast:

Extended variants
information (count: 5711 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:5711 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7870682	chr9:17204320-17204321	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183454242	chr9:17204374-17204375	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368082892	chr9:17204427-17204428	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553736885	chr9:17204485-17204486	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77148138	chr9:17204514-17204515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541074956	chr9:17204644-17204645	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533835211	chr9:17204655-17204656	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145433918	chr9:17204656-17204657	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573718050	chr9:17204667-17204668	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371478501	chr9:17204668-17204669	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs148768529	chr9:17204681-17204682	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs573569286	chr9:17204689-17204690	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562470151	chr9:17204724-17204725	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577794518	chr9:17204755-17204756	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs11562136	chr9:17204759-17204760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560185490	chr9:17204768-17204769	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556453713	chr9:17204796-17204797	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577933957	chr9:17204799-17204800	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143809247	chr9:17204800-17204801	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561547142	chr9:17204803-17204804	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs116950807	chr9:17204817-17204818	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550329027	chr9:17204873-17204874	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146803408	chr9:17204881-17204882	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35329619	chr9:17204912-17204913	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187297259	chr9:17204922-17204923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373759010	chr9:17204923-17204924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192240222	chr9:17204951-17204952	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140623156	chr9:17204955-17204956	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547436128	chr9:17205019-17205020	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565692931	chr9:17205021-17205022	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533846875	chr9:17205046-17205047	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs555343399	chr9:17205125-17205126	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76019887	chr9:17205147-17205148	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145727623	chr9:17205208-17205209	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560372990	chr9:17205215-17205216	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183126786	chr9:17205245-17205246	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577859453	chr9:17205291-17205292	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs151058811	chr9:17205294-17205295	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375405493	chr9:17205297-17205298	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs151030669	chr9:17205311-17205312	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113343073	chr9:17205315-17205316	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553811704	chr9:17205319-17205320	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140961095	chr9:17205363-17205364	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541512189	chr9:17205366-17205367	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150164271	chr9:17205422-17205423	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138648216	chr9:17205434-17205435	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543700824	chr9:17205438-17205439	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561483583	chr9:17205453-17205454	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187849004	chr9:17205470-17205471	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547448059	chr9:17205477-17205478	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17179000-17204400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:17191600-17207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:17201200-17206000	Weak transcription	Liver	Liver
4	chr9:17202000-17204600	Weak transcription	Pancreas	Pancrea
5	chr9:17203400-17206800	Weak transcription	Dnd41	blood
6	chr9:17203800-17207400	Weak transcription	Fetal Lung	lung
7	chr9:17204000-17205200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:17204000-17205200	Enhancers	Fetal Heart	heart
9	chr9:17204200-17204400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:17204200-17204600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:17204200-17204600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:17204200-17205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:17204200-17206200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:17204400-17204600	Enhancers	Ovary	ovary
15	chr9:17204400-17204800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:17204400-17205000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr9:17204400-17205000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:17204400-17205000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:17204400-17205000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:17204400-17205000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:17204400-17205000	Enhancers	Right Ventricle	heart
22	chr9:17204400-17205200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:17204400-17205200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:17204400-17205200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:17204400-17205200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:17204400-17205200	ZNF genes & repeats	Lung	lung
27	chr9:17204400-17205400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:17204400-17205400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr9:17204400-17205600	ZNF genes & repeats	Fetal Stomach	stomach
30	chr9:17204400-17206000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr9:17204600-17205000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr9:17204600-17205000	Enhancers	Left Ventricle	heart
33	chr9:17204600-17205200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:17204600-17205200	Enhancers	Pancreas	Pancrea
35	chr9:17204600-17236000	Weak transcription	Ovary	ovary
36	chr9:17204800-17205000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr9:17204800-17205000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr9:17204800-17205400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:17204800-17206600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:17204800-17208000	Weak transcription	Thymus	Thymus
41	chr9:17205000-17205200	Enhancers	Right Atrium	heart
42	chr9:17205000-17207000	Weak transcription	Left Ventricle	heart
43	chr9:17205000-17207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:17205000-17207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:17205200-17207400	Weak transcription	Pancreas	Pancrea
46	chr9:17205200-17208000	Weak transcription	Fetal Heart	heart
47	chr9:17205400-17205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:17205800-17206000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr9:17206000-17206400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr9:17206000-17206800	Enhancers	Liver	Liver

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