Variant report

Variant	esv2535857
Chromosome Location	chr9:6479763-6481183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:6480993-6481130	A549	lung:	n/a	n/a
2	FOXA1	chr9:6479970-6480329	HepG2	liver:	n/a	n/a
3	FOXA2	chr9:6479982-6480262	HepG2	liver:	n/a	n/a
4	HNF4G	chr9:6480015-6480399	HepG2	liver:	n/a	chr9:6480176-6480191
5	HNF4G	chr9:6480076-6480294	HepG2	liver:	n/a	chr9:6480176-6480191
6	NFYB	chr9:6481137-6481373	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:6480379-6480381	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:6480735-6480834	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr9:6480825-6481003	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:6480382-6480396	HepG2	liver:	n/a	n/a
11	PRDM1	chr9:6480104-6480135	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:6473054..6475074-chr9:6478186..6480540,2	K562	blood:
2	chr9:6478983..6480805-chr9:6480868..6482878,2	K562	blood:

Variant related genes	Relation type
UHRF2	TF binding region
ENSG00000147854	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555013083	chr9:6479784-6479785	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534000357	chr9:6479803-6479804	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539731986	chr9:6479805-6479806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112097077	chr9:6479818-6479819	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553591265	chr9:6479831-6479832	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569627144	chr9:6479842-6479843	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114749020	chr9:6479871-6479872	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115317795	chr9:6479897-6479898	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189535908	chr9:6479935-6479936	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540748218	chr9:6479950-6479951	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553115073	chr9:6479984-6479985	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182234768	chr9:6479987-6479988	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10975605	chr9:6480005-6480006	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs111616743	chr9:6480037-6480038	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563867225	chr9:6480084-6480085	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531246080	chr9:6480135-6480136	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113506777	chr9:6480139-6480140	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532913986	chr9:6480151-6480152	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528563186	chr9:6480199-6480200	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142510946	chr9:6480228-6480229	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564011810	chr9:6480248-6480249	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189019358	chr9:6480256-6480257	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533206592	chr9:6480260-6480261	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144840257	chr9:6480274-6480275	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569809209	chr9:6480343-6480344	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564185907	chr9:6480354-6480355	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537353130	chr9:6480380-6480381	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4463484	chr9:6480382-6480383	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs566937583	chr9:6480403-6480404	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534397665	chr9:6480423-6480424	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115801386	chr9:6480424-6480425	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577807513	chr9:6480428-6480429	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541415818	chr9:6480436-6480437	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538815829	chr9:6480444-6480445	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147946411	chr9:6480462-6480463	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10975606	chr9:6480512-6480513	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150296550	chr9:6480526-6480527	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs16924624	chr9:6480538-6480539	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs137951180	chr9:6480540-6480541	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149053464	chr9:6480548-6480549	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73399099	chr9:6480564-6480565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113310143	chr9:6480602-6480603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568931564	chr9:6480623-6480624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs67797327	chr9:6480658-6480659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563518365	chr9:6480679-6480680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530681170	chr9:6480702-6480703	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs16924626	chr9:6480726-6480727	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs566900427	chr9:6480748-6480749	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs16924628	chr9:6480751-6480752	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138601485	chr9:6480776-6480777	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	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	chr9:6435400-6482000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:6450000-6482800	Weak transcription	Pancreas	Pancrea
3	chr9:6452600-6488000	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:6452800-6481600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:6452800-6485400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr9:6452800-6485400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:6458600-6482800	Weak transcription	Gastric	stomach
8	chr9:6458800-6497200	Weak transcription	Colonic Mucosa	Colon
9	chr9:6459400-6501800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:6460600-6486800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:6461400-6486000	Weak transcription	K562	blood
12	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
13	chr9:6467400-6486200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:6467400-6497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:6468600-6481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:6468800-6482000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:6468800-6482000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:6468800-6482200	Weak transcription	Brain Anterior Caudate	brain
19	chr9:6470000-6481800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:6471600-6482800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:6471600-6501800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:6471600-6504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:6472200-6497200	Weak transcription	Aorta	Aorta
24	chr9:6472200-6508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:6473000-6491600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:6473000-6499600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:6473800-6498400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:6473800-6506200	Weak transcription	Small Intestine	intestine
29	chr9:6474400-6490600	Strong transcription	HUVEC	blood vessel
30	chr9:6474800-6502800	Strong transcription	Dnd41	blood
31	chr9:6475000-6488400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:6475200-6503000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr9:6475400-6482400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:6475400-6490400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr9:6475400-6491800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:6475400-6491800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr9:6475400-6494400	Strong transcription	Fetal Thymus	thymus
38	chr9:6475400-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr9:6475400-6508400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:6475400-6508800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr9:6475400-6508800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr9:6475600-6494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:6475800-6480400	Strong transcription	NHEK	skin
44	chr9:6475800-6483200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr9:6475800-6484600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr9:6475800-6488200	Strong transcription	Adipose Nuclei	Adipose
47	chr9:6475800-6491000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr9:6475800-6491800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:6475800-6492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:6475800-6492800	Strong transcription	GM12878-XiMat	blood

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