Variant report

Variant	nsv824877
Chromosome Location	chr9:22005194-22005666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:22003003..22006002-chr9:22110995..22113643,2	MCF-7	breast:
2	chr9:22003045..22005596-chr9:22081928..22084835,3	MCF-7	breast:
3	chr9:22003592..22005818-chr9:22239083..22240944,2	MCF-7	breast:
4	chr9:22003176..22005515-chr9:22097864..22100097,2	MCF-7	breast:
5	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:
6	chr9:22001905..22005443-chr9:22006837..22010550,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147883	chromatin interactions
ENSG00000236921	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564092888	chr9:22005209-22005210	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183610933	chr9:22005210-22005211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187657501	chr9:22005266-22005267	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531182018	chr9:22005293-22005294	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529540396	chr9:22005321-22005322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs3217986	chr9:22005330-22005331	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564825636	chr9:22005377-22005378	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542878873	chr9:22005386-22005387	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3217985	chr9:22005453-22005454	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs3217984	chr9:22005493-22005494	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538150287	chr9:22005535-22005536	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551180192	chr9:22005613-22005614	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557999070	chr9:22005614-22005615	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3217983	chr9:22005623-22005624	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3217982	chr9:22005647-22005648	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191774214	chr9:22005663-22005664	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:162)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	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
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	21272361	CNVD
Acute myeloid leukemia	21251322	CNVD
Burkitt''s lymphoma	19759907	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glioblastoma multiforme	21713760	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996200-22005200	Weak transcription	Lung	lung
3	chr9:21996200-22005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:21996400-22005200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:21996400-22005200	Weak transcription	NHDF-Ad	bronchial
6	chr9:21996400-22005200	Weak transcription	Osteobl	bone
7	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:21996800-22005200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:21997200-22005200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:22003000-22005800	Strong transcription	HSMM	muscle
11	chr9:22003800-22006800	Transcr. at gene 5' and 3'	NH-A	brain
12	chr9:22004000-22005200	Genic enhancers	Adipose Nuclei	Adipose
13	chr9:22004200-22005200	Strong transcription	HMEC	breast
14	chr9:22004200-22006400	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr9:22004400-22005600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:22004400-22006000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr9:22004600-22005200	Active TSS	Dnd41	blood
18	chr9:22004600-22005400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:22004800-22005600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:22004800-22005600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
21	chr9:22004800-22005600	Bivalent Enhancer	GM12878-XiMat	blood
22	chr9:22004800-22006400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr9:22004800-22006600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:22005000-22005200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:22005000-22005200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr9:22005000-22005200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr9:22005000-22005200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr9:22005000-22005200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:22005000-22005200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr9:22005000-22005200	Genic enhancers	NHLF	lung
31	chr9:22005000-22005400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr9:22005000-22005400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:22005000-22005400	Transcr. at gene 5' and 3'	NHEK	skin
34	chr9:22005000-22005600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr9:22005000-22005800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr9:22005000-22005800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:22005000-22005800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:22005000-22005800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:22005000-22006000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:22005000-22006000	ZNF genes & repeats	Esophagus	oesophagus
41	chr9:22005000-22006200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr9:22005000-22006200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:22005000-22006400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr9:22005000-22006400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr9:22005000-22006400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr9:22005000-22006400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr9:22005000-22006400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr9:22005000-22006400	Transcr. at gene 5' and 3'	HSMMtube	muscle
49	chr9:22005000-22006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr9:22005000-22006600	Transcr. at gene 5' and 3'	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links