Variant report

Variant	esv32957
Chromosome Location	chr9:15720059-15737099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15510294..15512690-chr9:15720146..15721868,2	MCF-7	breast:
2	chr9:15732005..15734234-chr9:15736903..15738825,2	K562	blood:
3	chr9:15732005..15734234-chr9:15736903..15738825,2	K562	blood:

Variant related genes	Relation type
ENSG00000164985	chromatin interactions

Extended variants
information (count: 688 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572296723	chr9:15720107-15720108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143059470	chr9:15720131-15720132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60331676	chr9:15720132-15720133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144190009	chr9:15720133-15720134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535155888	chr9:15720135-15720136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397776617	chr9:15720136-15720137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554378251	chr9:15720144-15720145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186979487	chr9:15720147-15720148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145356071	chr9:15720152-15720153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199795724	chr9:15720190-15720191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574512682	chr9:15720202-15720203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539070906	chr9:15720230-15720231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557612187	chr9:15720231-15720232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572838520	chr9:15720276-15720277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189908007	chr9:15720292-15720293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377620157	chr9:15720384-15720385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182637967	chr9:15720418-15720419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369697750	chr9:15720442-15720443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114850470	chr9:15720447-15720448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553539301	chr9:15720474-15720475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188831997	chr9:15720481-15720482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571597251	chr9:15720500-15720501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533152620	chr9:15720537-15720538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193223045	chr9:15720542-15720543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576781041	chr9:15720551-15720552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528036918	chr9:15720565-15720566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545856053	chr9:15720578-15720579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549700892	chr9:15720601-15720602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185460756	chr9:15720657-15720658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12349323	chr9:15720718-15720719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377073591	chr9:15720751-15720752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10962125	chr9:15720790-15720791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113535309	chr9:15720808-15720809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142338440	chr9:15720815-15720816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539033967	chr9:15720888-15720889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557373458	chr9:15720896-15720897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572799882	chr9:15720919-15720920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544902692	chr9:15720958-15720959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561545063	chr9:15720971-15720972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187627612	chr9:15720994-15720995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373583357	chr9:15720998-15720999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530204130	chr9:15721022-15721023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79082418	chr9:15721023-15721024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs151205401	chr9:15721065-15721066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562826414	chr9:15721092-15721093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578173104	chr9:15721127-15721128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545416686	chr9:15721130-15721131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192120630	chr9:15721306-15721307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184333297	chr9:15721371-15721372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375710077	chr9:15721381-15721382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15669000-15720800	Weak transcription	Gastric	stomach
2	chr9:15676600-15725000	Weak transcription	Pancreas	Pancrea
3	chr9:15679800-15746800	Weak transcription	Ovary	ovary
4	chr9:15687600-15746600	Weak transcription	Aorta	Aorta
5	chr9:15690400-15721800	Weak transcription	Fetal Lung	lung
6	chr9:15699600-15728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:15712600-15722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:15715200-15722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:15715200-15746200	Weak transcription	Left Ventricle	heart
10	chr9:15715600-15733800	Weak transcription	Brain Anterior Caudate	brain
11	chr9:15716000-15727800	Weak transcription	Fetal Thymus	thymus
12	chr9:15716400-15723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:15716600-15723000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:15717400-15727600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:15718000-15749600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:15718400-15724800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:15718600-15746600	Weak transcription	Thymus	Thymus
18	chr9:15718800-15722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:15718800-15727800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:15719000-15721600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:15719000-15723000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:15719400-15721000	Weak transcription	NHDF-Ad	bronchial
23	chr9:15720400-15733400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:15720600-15735200	Weak transcription	Adipose Nuclei	Adipose
25	chr9:15721000-15721400	Enhancers	NHDF-Ad	bronchial
26	chr9:15721400-15724000	Weak transcription	NHDF-Ad	bronchial
27	chr9:15721600-15725000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:15721800-15722000	Genic enhancers	Fetal Lung	lung
29	chr9:15721800-15722800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:15722000-15722200	Weak transcription	Fetal Lung	lung
31	chr9:15722200-15723600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:15722200-15726400	Enhancers	Fetal Lung	lung
33	chr9:15722400-15723000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:15722400-15723400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:15722600-15723200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:15722600-15723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:15722600-15723400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:15722600-15723400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:15722600-15723400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:15722600-15723400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:15722600-15723400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr9:15722600-15723400	Enhancers	Fetal Stomach	stomach
43	chr9:15722600-15725400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:15722800-15723200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:15722800-15723400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:15722800-15723400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:15722800-15723400	Enhancers	Brain Hippocampus Middle	brain
48	chr9:15722800-15724200	Enhancers	NH-A	brain
49	chr9:15722800-15725200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:15722800-15725400	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links