Variant report

Variant	esv3482045
Chromosome Location	chr9:17401350-17407090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:17219375..17219930-chr9:17402045..17403347,3	MCF-7	breast:
2	chr9:17219155..17220052-chr9:17401883..17402825,5	MCF-7	breast:
3	chr9:17116081..17117141-chr9:17402172..17402905,3	MCF-7	breast:

Extended variants
information (count: 283 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200584503	chr9:17401375-17401376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76320640	chr9:17401386-17401387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142857470	chr9:17401392-17401393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546600848	chr9:17401416-17401417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372071827	chr9:17401470-17401471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569294611	chr9:17401483-17401484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568496476	chr9:17401489-17401490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113239407	chr9:17401512-17401513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535576812	chr9:17401516-17401517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557470602	chr9:17401524-17401525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1372700	chr9:17401525-17401526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147016273	chr9:17401532-17401533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558454581	chr9:17401543-17401544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189971434	chr9:17401573-17401574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558218823	chr9:17401628-17401629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533720169	chr9:17401701-17401702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181627265	chr9:17401705-17401706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114970317	chr9:17401721-17401722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368245431	chr9:17401725-17401726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567378659	chr9:17401792-17401793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77358333	chr9:17401810-17401811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72409984	chr9:17401813-17401814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577738450	chr9:17401814-17401815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34064391	chr9:17401815-17401816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544821014	chr9:17401836-17401837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559978049	chr9:17401884-17401885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527584534	chr9:17401895-17401896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35047997	chr9:17401896-17401897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10963082	chr9:17401898-17401899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561925802	chr9:17401906-17401907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148165812	chr9:17401918-17401919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139730520	chr9:17401919-17401920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386414559	chr9:17401921-17401922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201949964	chr9:17401922-17401923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3084529	chr9:17401923-17401924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529322478	chr9:17401933-17401934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550768989	chr9:17401941-17401942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573955144	chr9:17401965-17401966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186042249	chr9:17401966-17401967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189175812	chr9:17402009-17402010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375277667	chr9:17402019-17402020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73428117	chr9:17402020-17402021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112074532	chr9:17402076-17402077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562917153	chr9:17402100-17402101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575156915	chr9:17402110-17402111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181894356	chr9:17402116-17402117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184979448	chr9:17402125-17402126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572598815	chr9:17402128-17402129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16935618	chr9:17402129-17402130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190852655	chr9:17402136-17402137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17368400-17457800	Weak transcription	Pancreas	Pancrea
2	chr9:17368600-17411200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:17368600-17411400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:17368600-17411400	Weak transcription	Aorta	Aorta
5	chr9:17368800-17411400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:17369400-17411200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:17377600-17403000	Weak transcription	Fetal Stomach	stomach
8	chr9:17379400-17404200	Weak transcription	Psoas Muscle	Psoas
9	chr9:17380600-17411000	Weak transcription	Left Ventricle	heart
10	chr9:17381000-17411200	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:17381200-17411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:17381400-17422800	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:17385400-17411400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:17387000-17411200	Weak transcription	Dnd41	blood
15	chr9:17388200-17411400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:17389000-17404200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:17391600-17411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:17393400-17411400	Weak transcription	Lung	lung
19	chr9:17393400-17433000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:17393600-17412800	Weak transcription	Fetal Kidney	kidney
21	chr9:17393600-17413000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:17393800-17413000	Weak transcription	A549	lung
23	chr9:17395400-17413600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:17395400-17417800	Weak transcription	NHDF-Ad	bronchial
25	chr9:17395600-17410600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:17395600-17411200	Weak transcription	Fetal Lung	lung
27	chr9:17395800-17405000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:17396000-17410800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:17396200-17413200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr9:17396200-17440000	Weak transcription	Adipose Nuclei	Adipose
31	chr9:17396800-17411000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:17397400-17411000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:17397800-17411000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:17397800-17411200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:17398800-17430600	Weak transcription	HSMM	muscle
36	chr9:17399000-17407600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:17399000-17411200	Weak transcription	Ovary	ovary
38	chr9:17399200-17411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:17399200-17411200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:17399400-17402000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:17399400-17425400	Weak transcription	Fetal Heart	heart
42	chr9:17399800-17402200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:17400400-17407000	Weak transcription	Liver	Liver
44	chr9:17401400-17402600	Enhancers	HUVEC	blood vessel
45	chr9:17402000-17402200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:17402000-17402200	Enhancers	NHEK	skin
47	chr9:17402200-17402400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:17402800-17403200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:17403000-17406000	Strong transcription	Fetal Stomach	stomach
50	chr9:17404200-17404400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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