Variant report

Variant	esv2761484
Chromosome Location	chr9:6518374-6527209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6523722..6524445-chr9:6667595..6668159,2	K562	blood:
2	chr9:6516849..6518888-chr9:6521453..6523458,2	K562	blood:
3	chr9:6516849..6518888-chr9:6521453..6523458,2	K562	blood:

Extended variants
information (count: 434 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534619020	chr9:6518374-6518375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10975621	chr9:6518422-6518423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546688965	chr9:6518429-6518430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192062677	chr9:6518438-6518439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528051865	chr9:6518441-6518442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546494763	chr9:6518455-6518456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557336050	chr9:6518501-6518502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12346169	chr9:6518514-6518515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201462425	chr9:6518618-6518619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376327100	chr9:6518629-6518630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142904030	chr9:6518642-6518643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62566156	chr9:6518659-6518660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536497361	chr9:6518665-6518666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568156059	chr9:6518688-6518689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200839813	chr9:6518705-6518706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202044658	chr9:6518706-6518707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61473967	chr9:6518708-6518709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200624782	chr9:6518710-6518711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145132483	chr9:6518768-6518769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567869048	chr9:6518771-6518772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369121512	chr9:6518772-6518773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571171502	chr9:6518805-6518806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372477469	chr9:6518811-6518812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565024160	chr9:6518820-6518821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576965868	chr9:6518822-6518823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532265522	chr9:6518866-6518867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139009154	chr9:6518891-6518892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563295644	chr9:6518902-6518903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10975622	chr9:6518909-6518910	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs114681386	chr9:6518923-6518924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568938426	chr9:6519024-6519025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142280144	chr9:6519084-6519085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112699053	chr9:6519111-6519112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528070172	chr9:6519120-6519121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185468194	chr9:6519123-6519124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571352353	chr9:6519129-6519130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538401473	chr9:6519141-6519142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189479234	chr9:6519145-6519146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12352034	chr9:6519172-6519173	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs150578422	chr9:6519191-6519192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112759801	chr9:6519197-6519198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566860215	chr9:6519205-6519206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533923778	chr9:6519206-6519207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558574708	chr9:6519207-6519208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192979412	chr9:6519208-6519209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184835548	chr9:6519225-6519226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558935458	chr9:6519226-6519227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575536997	chr9:6519261-6519262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201871236	chr9:6519286-6519287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575320447	chr9:6519297-6519298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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	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
Dyslexia	22102821	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
2	chr9:6498800-6554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:6499000-6528400	Weak transcription	Pancreas	Pancrea
4	chr9:6506200-6518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:6506400-6521800	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:6506400-6530600	Weak transcription	Gastric	stomach
7	chr9:6506800-6519200	Weak transcription	Fetal Kidney	kidney
8	chr9:6507000-6523800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:6507000-6524800	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:6507000-6534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:6507200-6522400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:6507800-6521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr9:6508000-6520200	Weak transcription	Fetal Intestine Small	intestine
14	chr9:6508200-6519400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr9:6508200-6521800	Weak transcription	Fetal Stomach	stomach
16	chr9:6508400-6519600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr9:6508400-6521000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:6508400-6521800	Weak transcription	Primary B cells from cord blood	blood
19	chr9:6508400-6523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:6508400-6525000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:6508400-6526400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:6508400-6526600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr9:6508400-6528200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:6508400-6530600	Weak transcription	Left Ventricle	heart
25	chr9:6508600-6524200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:6508600-6537800	Weak transcription	HMEC	breast
27	chr9:6508600-6538200	Weak transcription	NHEK	skin
28	chr9:6508800-6518600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:6508800-6519000	Weak transcription	Dnd41	blood
30	chr9:6508800-6520200	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:6508800-6521400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:6508800-6521800	Weak transcription	GM12878-XiMat	blood
33	chr9:6508800-6523800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr9:6508800-6526600	Weak transcription	HSMM	muscle
35	chr9:6509000-6519200	Weak transcription	Fetal Intestine Large	intestine
36	chr9:6509000-6520200	Weak transcription	Liver	Liver
37	chr9:6509000-6521600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:6509000-6521800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:6509000-6521800	Weak transcription	Adipose Nuclei	Adipose
40	chr9:6509400-6521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:6509800-6525000	Weak transcription	Osteobl	bone
42	chr9:6509800-6530200	Weak transcription	A549	lung
43	chr9:6510000-6521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:6510000-6521800	Weak transcription	Fetal Brain Female	brain
45	chr9:6510400-6558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:6510600-6522200	Weak transcription	NHDF-Ad	bronchial
47	chr9:6510600-6525000	Weak transcription	NH-A	brain
48	chr9:6510600-6543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:6510800-6521200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:6511000-6518600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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