Variant report

Variant	esv3331820
Chromosome Location	chr9:6766607-6768263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6765179..6766927-chr9:6770237..6771845,2	K562	blood:
2	chr9:6757388..6759261-chr9:6764601..6766785,2	MCF-7	breast:
3	chr9:6766833..6770674-chr9:6780008..6783723,3	K562	blood:

Variant related genes	Relation type
ENSG00000107077	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140609472	chr9:6766682-6766683	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576686543	chr9:6766685-6766686	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115471919	chr9:6766728-6766729	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562415738	chr9:6766731-6766732	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs202219046	chr9:6766769-6766770	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541437644	chr9:6766793-6766794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554330832	chr9:6766804-6766805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574114567	chr9:6766811-6766812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145735590	chr9:6766817-6766818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138329183	chr9:6766851-6766852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539868397	chr9:6766852-6766853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571270348	chr9:6766881-6766882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141325196	chr9:6766882-6766883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531391758	chr9:6766904-6766905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141163591	chr9:6766956-6766957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369132539	chr9:6766984-6766985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549667792	chr9:6766986-6766987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114400248	chr9:6767008-6767009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538589860	chr9:6767030-6767031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568343591	chr9:6767034-6767035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535355980	chr9:6767048-6767049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145120106	chr9:6767054-6767055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190024291	chr9:6767077-6767078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372533966	chr9:6767088-6767089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539567765	chr9:6767119-6767120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200478982	chr9:6767137-6767138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182704933	chr9:6767146-6767147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576166765	chr9:6767169-6767170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537655436	chr9:6767173-6767174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148367516	chr9:6767177-6767178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574292243	chr9:6767200-6767201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541348655	chr9:6767201-6767202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370423868	chr9:6767202-6767203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552980248	chr9:6767208-6767209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186627461	chr9:6767225-6767226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577613779	chr9:6767249-6767250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545140417	chr9:6767255-6767256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375601485	chr9:6767301-6767302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371067521	chr9:6767325-6767326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373344280	chr9:6767348-6767349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200361359	chr9:6767355-6767356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530860133	chr9:6767372-6767373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543622502	chr9:6767379-6767380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567481263	chr9:6767384-6767385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569257093	chr9:6767443-6767444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561694865	chr9:6767475-6767476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529220343	chr9:6767476-6767477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191119286	chr9:6767503-6767504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11999797	chr9:6767519-6767520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201534222	chr9:6767522-6767523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6759400-6767400	Weak transcription	Gastric	stomach
2	chr9:6759600-6769200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:6759600-6782200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:6759800-6766800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:6759800-6771800	Weak transcription	Ovary	ovary
6	chr9:6759800-6778800	Weak transcription	Psoas Muscle	Psoas
7	chr9:6759800-6780000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:6759800-6782800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:6760000-6774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:6761600-6767400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:6761600-6771600	Weak transcription	Pancreas	Pancrea
12	chr9:6761800-6792800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:6763200-6767000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:6763200-6767000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:6763200-6767000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:6763400-6767000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr9:6763400-6775000	Weak transcription	Fetal Thymus	thymus
18	chr9:6763400-6775800	Weak transcription	Thymus	Thymus
19	chr9:6763600-6767200	Enhancers	HepG2	liver
20	chr9:6763600-6779200	Weak transcription	Primary B cells from cord blood	blood
21	chr9:6763600-6782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:6764000-6769800	Weak transcription	Left Ventricle	heart
23	chr9:6764200-6771400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr9:6764200-6771600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:6764400-6767200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:6764400-6767200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:6764400-6768800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:6764600-6779400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr9:6764800-6767200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:6765000-6777400	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:6765200-6769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:6765200-6771800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:6765200-6774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:6765200-6779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:6765200-6780400	Weak transcription	Small Intestine	intestine
36	chr9:6765400-6767200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:6765400-6769200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:6765400-6769600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:6765400-6771600	Weak transcription	Fetal Intestine Small	intestine
40	chr9:6765400-6771800	Weak transcription	Brain Anterior Caudate	brain
41	chr9:6765400-6779200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:6765400-6779400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr9:6765600-6766800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr9:6765600-6767000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:6765600-6768000	Weak transcription	GM12878-XiMat	blood
46	chr9:6765600-6769600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:6765600-6782000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:6765800-6767000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr9:6765800-6767000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:6765800-6767600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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