Variant report

Variant	nsv526219
Chromosome Location	chr9:14657139-14663394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
2	chr9:14464938..14465658-chr9:14661578..14662250,2	MCF-7	breast:
3	chr9:14442256..14442845-chr9:14661275..14662107,4	K562	blood:
4	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
5	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
6	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
7	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
8	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
9	chr9:14616153..14617361-chr9:14660905..14661912,4	MCF-7	breast:

No data

Extended variants
information (count: 329 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10756597	chr9:14657139-14657140	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558562475	chr9:14657141-14657142	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557845654	chr9:14657151-14657152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577620558	chr9:14657153-14657154	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112266437	chr9:14657164-14657165	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs543453685	chr9:14657225-14657226	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563130973	chr9:14657251-14657252	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370459532	chr9:14657305-14657306	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60712266	chr9:14657313-14657314	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148430968	chr9:14657423-14657424	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562008312	chr9:14657425-14657426	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112126391	chr9:14657506-14657507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs36008042	chr9:14657514-14657515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs397830131	chr9:14657517-14657518	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547537260	chr9:14657532-14657533	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186848125	chr9:14657583-14657584	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77238036	chr9:14657595-14657596	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564647493	chr9:14657616-14657617	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34734434	chr9:14657659-14657660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141501695	chr9:14657672-14657673	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550182812	chr9:14657682-14657683	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569928870	chr9:14657705-14657706	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535821184	chr9:14657708-14657709	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549557540	chr9:14657781-14657782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565941462	chr9:14657790-14657791	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534816504	chr9:14657794-14657795	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs36018181	chr9:14657804-14657805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7851657	chr9:14657819-14657820	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368287641	chr9:14657832-14657833	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191700412	chr9:14657855-14657856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536734489	chr9:14657874-14657875	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs182473875	chr9:14657903-14657904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548077068	chr9:14657921-14657922	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573315165	chr9:14657923-14657924	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542173413	chr9:14657932-14657933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185627574	chr9:14657969-14657970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371212706	chr9:14657978-14657979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs17287927	chr9:14657985-14657986	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541650132	chr9:14658017-14658018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564506519	chr9:14658020-14658021	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs57552216	chr9:14658037-14658038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539920713	chr9:14658095-14658096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs10810203	chr9:14658112-14658113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576755159	chr9:14658145-14658146	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563743889	chr9:14658151-14658152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545791660	chr9:14658160-14658161	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529308367	chr9:14658163-14658164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549356565	chr9:14658177-14658178	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78030239	chr9:14658180-14658181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs13289971	chr9:14658211-14658212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:92)

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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:14634600-14659000	Weak transcription	Fetal Stomach	stomach
4	chr9:14634600-14692400	Weak transcription	Gastric	stomach
5	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
6	chr9:14635800-14659800	Weak transcription	Ovary	ovary
7	chr9:14648200-14663800	Weak transcription	Placenta	Placenta
8	chr9:14651400-14659400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr9:14652600-14658400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:14653600-14657400	ZNF genes & repeats	GM12878-XiMat	blood
12	chr9:14653600-14661000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:14653800-14657800	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
15	chr9:14654000-14663200	Weak transcription	Osteobl	bone
16	chr9:14654200-14657200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr9:14654200-14686200	Weak transcription	Fetal Brain Male	brain
18	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
19	chr9:14654400-14657800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
21	chr9:14655200-14658000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:14655200-14679000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:14655400-14657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:14655400-14659600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr9:14655400-14660400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:14655400-14662400	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:14655400-14662800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:14655400-14670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:14655400-14670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:14655400-14671000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:14655400-14681400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:14655400-14681600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
36	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
37	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:14655400-14691400	Weak transcription	A549	lung
39	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:14655600-14657600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:14655600-14658200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:14655600-14663000	Weak transcription	Brain Germinal Matrix	brain
43	chr9:14655600-14670000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr9:14655600-14671400	Weak transcription	HSMM	muscle
45	chr9:14655600-14680800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:14655600-14686200	Weak transcription	Brain Anterior Caudate	brain
47	chr9:14655600-14686600	Weak transcription	NHDF-Ad	bronchial
48	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
50	chr9:14655800-14658600	Weak transcription	Fetal Muscle Leg	muscle

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