Variant report

Variant	nsv430011
Chromosome Location	chr9:25449100-25545000
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:25450846..25453685-chr9:25454705..25457278,2	MCF-7	breast:
2	chr9:25518647..25520597-chr9:25677256..25680213,2	MCF-7	breast:
3	chr9:25478036..25481264-chr9:25482615..25485278,3	MCF-7	breast:
4	chr9:25448185..25450163-chr9:25451079..25453175,2	MCF-7	breast:
5	chr9:25450846..25453685-chr9:25454705..25457278,2	MCF-7	breast:
6	chr9:25490280..25493000-chr9:25503726..25505680,2	MCF-7	breast:
7	chr9:25490280..25493000-chr9:25503726..25505680,2	MCF-7	breast:
8	chr9:25478036..25481264-chr9:25482615..25485278,3	MCF-7	breast:
9	chr9:25448185..25450163-chr9:25451079..25453175,2	MCF-7	breast:
10	chr9:25515475..25518346-chr9:25676938..25679402,2	MCF-7	breast:
11	chr9:25517372..25520682-chr9:25675267..25678566,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198680	chromatin interactions

Extended variants
information (count: 1020 )
Associated
traits (count: 147 )

Variant overlapped rSNPs/rCNVs (count:1020 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80221453	chr9:25452602-25452603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10812249	chr9:25452606-25452607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531474239	chr9:25452613-25452614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190019563	chr9:25452626-25452627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10966918	chr9:25452677-25452678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529172174	chr9:25452678-25452679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547684001	chr9:25452682-25452683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144981580	chr9:25452692-25452693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370742445	chr9:25452696-25452697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539825063	chr9:25452726-25452727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373637558	chr9:25452728-25452729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560167197	chr9:25452734-25452735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557915302	chr9:25452800-25452801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13300284	chr9:25452812-25452813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
15	rs544714739	chr9:25452844-25452845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138813404	chr9:25452908-25452909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374026589	chr9:25452909-25452910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13300165	chr9:25452920-25452921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7861656	chr9:25452963-25452964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182144599	chr9:25452991-25452992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553639535	chr9:25453014-25453015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80233017	chr9:25453050-25453051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561245362	chr9:25453052-25453053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149419546	chr9:25453109-25453110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541354612	chr9:25453154-25453155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76188910	chr9:25453173-25453174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543562241	chr9:25453196-25453197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575784651	chr9:25453237-25453238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561829042	chr9:25453245-25453246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560026551	chr9:25453254-25453255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529109058	chr9:25453255-25453256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7864978	chr9:25453288-25453289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565963543	chr9:25453294-25453295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531665003	chr9:25453339-25453340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185541953	chr9:25453360-25453361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564625036	chr9:25453362-25453363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551739777	chr9:25453363-25453364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569746517	chr9:25453411-25453412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551907037	chr9:25453421-25453422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7851505	chr9:25453447-25453448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190775769	chr9:25453520-25453521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547945487	chr9:25453596-25453597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547345504	chr9:25453631-25453632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567481722	chr9:25453670-25453671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535216264	chr9:25453679-25453680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144849509	chr9:25453701-25453702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373701788	chr9:25453728-25453729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578184523	chr9:25453738-25453739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545405869	chr9:25453771-25453772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116068945	chr9:25453781-25453782	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:147)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Barrett''s syndrome	19417022	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
polycythaemia	22829968	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25452600-25453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:25453200-25453600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:25453600-25454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:25460800-25461600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:25461000-25463800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:25461400-25462000	Enhancers	NHEK	skin
7	chr9:25463200-25463800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:25471800-25472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:25472000-25472200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:25472000-25472400	Enhancers	NHEK	skin
11	chr9:25472000-25472600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:25472200-25472400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:25472200-25472400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:25472800-25473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:25473800-25475000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:25474200-25474400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:25479800-25480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:25480000-25481200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:25480600-25482600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:25480800-25482000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:25481200-25481800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:25481200-25481800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:25481200-25482000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:25481200-25482000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:25481200-25482200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:25481200-25482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr9:25496800-25497400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:25497400-25497800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:25497800-25498000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:25505000-25506000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:25505200-25505800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:25505400-25506000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr9:25513400-25514000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:25513400-25514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr9:25513800-25514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:25514600-25518200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:25517400-25520200	Enhancers	Placenta	Placenta
38	chr9:25517600-25518000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:25518000-25519000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:25518200-25520000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:25519000-25519400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr9:25519000-25519600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:25519200-25519400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:25519200-25519600	Enhancers	Fetal Kidney	kidney
45	chr9:25537600-25538600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:25537600-25538600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:25537600-25538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:25537600-25539000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:25537800-25538200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:25537800-25538200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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