Variant report

Variant	nsv428537
Chromosome Location	chr9:17146369-17308494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 8047 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:8047 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557065712	chr9:17146382-17146383	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78256480	chr9:17146391-17146392	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112975402	chr9:17146418-17146419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543269094	chr9:17146467-17146468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187831301	chr9:17146488-17146489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576596413	chr9:17146497-17146498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560145868	chr9:17146568-17146569	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527404152	chr9:17146569-17146570	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs954355	chr9:17146575-17146576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190978533	chr9:17146594-17146595	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561762394	chr9:17146696-17146697	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529750896	chr9:17146798-17146799	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541851349	chr9:17146865-17146866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370715136	chr9:17146867-17146868	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183191868	chr9:17146888-17146889	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563090416	chr9:17146924-17146925	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531253764	chr9:17146972-17146973	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551718857	chr9:17146975-17146976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188124774	chr9:17147007-17147008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191949883	chr9:17147038-17147039	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528722539	chr9:17147066-17147067	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546873644	chr9:17147084-17147085	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373517292	chr9:17147087-17147088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145576554	chr9:17147117-17147118	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535534830	chr9:17147119-17147120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557331188	chr9:17147125-17147126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2779772	chr9:17147191-17147192	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78101069	chr9:17147196-17147197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558458075	chr9:17147201-17147202	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562718972	chr9:17147205-17147206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs540874966	chr9:17147212-17147213	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552882772	chr9:17147236-17147237	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533050780	chr9:17147251-17147252	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547848230	chr9:17147263-17147264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568311760	chr9:17147284-17147285	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs574477537	chr9:17147325-17147326	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541532230	chr9:17147356-17147357	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2779771	chr9:17147361-17147362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184407149	chr9:17147372-17147373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575345946	chr9:17147400-17147401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs74859634	chr9:17147438-17147439	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs2774625	chr9:17147449-17147450	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528783523	chr9:17147477-17147478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116205526	chr9:17147494-17147495	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs187541393	chr9:17147520-17147521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116566237	chr9:17147522-17147523	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192523668	chr9:17147523-17147524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185703607	chr9:17147546-17147547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79562752	chr9:17147547-17147548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551360563	chr9:17147558-17147559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	21364760	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17135800-17154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:17135800-17155200	Weak transcription	Spleen	Spleen
3	chr9:17136000-17147000	Weak transcription	Left Ventricle	heart
4	chr9:17136000-17155200	Weak transcription	Fetal Intestine Large	intestine
5	chr9:17136000-17161000	Weak transcription	Psoas Muscle	Psoas
6	chr9:17136200-17146400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:17136200-17148000	Weak transcription	Fetal Kidney	kidney
8	chr9:17136200-17148200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:17136200-17148200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:17136200-17148400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:17136200-17152600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr9:17136200-17154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:17136200-17155200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:17136200-17157600	Weak transcription	Fetal Thymus	thymus
15	chr9:17136200-17159200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:17136200-17159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:17136400-17146600	Weak transcription	HUVEC	blood vessel
18	chr9:17136400-17148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:17136400-17148000	Weak transcription	Osteobl	bone
20	chr9:17136400-17148200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:17136400-17148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:17136400-17151800	Weak transcription	NH-A	brain
23	chr9:17136400-17154800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:17136400-17156600	Weak transcription	NHLF	lung
25	chr9:17136400-17159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:17136400-17163800	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:17136400-17164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:17136600-17148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:17136600-17154400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:17136600-17154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:17136800-17154000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:17136800-17159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:17137000-17148000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:17137000-17148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:17137800-17150000	Weak transcription	NHDF-Ad	bronchial
36	chr9:17137800-17160400	Weak transcription	Hela-S3	cervix
37	chr9:17140000-17154000	Weak transcription	Fetal Stomach	stomach
38	chr9:17140800-17147200	Weak transcription	Ovary	ovary
39	chr9:17142800-17154200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:17143400-17146400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr9:17143400-17148800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr9:17143600-17149400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:17143800-17149400	Strong transcription	Liver	Liver
44	chr9:17144000-17146600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:17144200-17155000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:17144400-17154400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:17144800-17146400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:17145200-17146600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:17145200-17147200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:17145400-17148800	Strong transcription	Dnd41	blood

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