Variant report

Variant	esv2755661
Chromosome Location	chr9:14615367-14660700
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
2	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
3	chr9:14616185..14616937-chr9:14768483..14769168,4	MCF-7	breast:
4	chr9:14616153..14617361-chr9:14660905..14661912,4	MCF-7	breast:
5	chr9:14442114..14442886-chr9:14652552..14653366,4	MCF-7	breast:
6	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
7	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
8	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
9	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
10	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
11	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
12	chr9:14607657..14609554-chr9:14615392..14617575,2	K562	blood:
13	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
14	chr9:14627684..14629345-chr9:14693335..14694855,2	MCF-7	breast:
15	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175893	chromatin interactions

Extended variants
information (count: 2121 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2121 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16932063	chr9:14615367-14615368	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367829920	chr9:14615395-14615396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565719299	chr9:14615400-14615401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534638855	chr9:14615418-14615419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568527038	chr9:14615421-14615422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146228068	chr9:14615436-14615437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371981269	chr9:14615437-14615438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543210958	chr9:14615447-14615448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192356411	chr9:14615589-14615590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573626768	chr9:14615605-14615606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185631353	chr9:14615638-14615639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559426016	chr9:14615639-14615640	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116923742	chr9:14615651-14615652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541794912	chr9:14615678-14615679	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16932064	chr9:14615679-14615680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533584714	chr9:14615698-14615699	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550075193	chr9:14615737-14615738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563881762	chr9:14615739-14615740	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563866368	chr9:14615828-14615829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531398200	chr9:14615838-14615839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77196547	chr9:14615914-14615915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1130072	chr9:14615935-14615936	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs568533047	chr9:14616006-14616007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77845378	chr9:14616012-14616013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190143746	chr9:14616023-14616024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551270897	chr9:14616028-14616029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571417308	chr9:14616036-14616037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537272659	chr9:14616039-14616040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201779857	chr9:14616083-14616084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556906419	chr9:14616086-14616087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573765851	chr9:14616124-14616125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10756585	chr9:14616166-14616167	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529137199	chr9:14616182-14616183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373157873	chr9:14616199-14616200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181852869	chr9:14616292-14616293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184857115	chr9:14616296-14616297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544982608	chr9:14616341-14616342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564820377	chr9:14616343-14616344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578206200	chr9:14616361-14616362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4741411	chr9:14616371-14616372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563767924	chr9:14616372-14616373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539155833	chr9:14616383-14616384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149815505	chr9:14616436-14616437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369886554	chr9:14616454-14616455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559380258	chr9:14616473-14616474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528482173	chr9:14616489-14616490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4741412	chr9:14616520-14616521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571594568	chr9:14616559-14616560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12236525	chr9:14616590-14616591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs145823995	chr9:14616614-14616615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
2	chr9:14587800-14618400	Weak transcription	HUVEC	blood vessel
3	chr9:14588200-14618800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:14594400-14618200	Weak transcription	NH-A	brain
5	chr9:14594800-14633400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
7	chr9:14596600-14618600	Weak transcription	Adipose Nuclei	Adipose
8	chr9:14596600-14618800	Weak transcription	Left Ventricle	heart
9	chr9:14596600-14618800	Weak transcription	Ovary	ovary
10	chr9:14596600-14618800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:14596600-14627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:14596600-14627600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:14596600-14629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:14596600-14629800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:14596600-14630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:14596600-14630600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:14596600-14630800	Weak transcription	Aorta	Aorta
18	chr9:14596600-14630800	Weak transcription	Fetal Intestine Small	intestine
19	chr9:14596600-14630800	Weak transcription	HSMMtube	muscle
20	chr9:14596600-14634000	Weak transcription	Gastric	stomach
21	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:14596800-14618600	Weak transcription	Liver	Liver
23	chr9:14597000-14618800	Weak transcription	Fetal Intestine Large	intestine
24	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:14597800-14633600	Weak transcription	Pancreas	Pancrea
26	chr9:14598200-14620800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:14598200-14633200	Weak transcription	Fetal Stomach	stomach
28	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
29	chr9:14601400-14636800	Weak transcription	Small Intestine	intestine
30	chr9:14603200-14618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:14603800-14618400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:14604600-14631000	Weak transcription	GM12878-XiMat	blood
33	chr9:14605600-14630000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr9:14605600-14654800	Weak transcription	HSMM	muscle
35	chr9:14605800-14634000	Weak transcription	Esophagus	oesophagus
36	chr9:14608400-14627000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:14609400-14616200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:14609600-14628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:14609800-14615600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:14610000-14618200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:14610000-14627200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:14610200-14618800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:14610400-14618800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:14611200-14632800	Weak transcription	Placenta	Placenta
46	chr9:14612400-14630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:14612800-14641200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
49	chr9:14613800-14618800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr9:14614600-14616800	Weak transcription	Primary B cells from peripheral blood	blood

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