Variant report

Variant	nsv1017689
Chromosome Location	chr9:790234-834780
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
2	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:
3	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:
4	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:
5	chr9:826413..827016-chr9:1004866..1005745,2	MCF-7	breast:
6	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
7	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
8	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
9	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
10	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:
11	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
12	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
13	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
14	chr9:829461..831177-chr9:832230..834782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000107104	chromatin interactions

Extended variants
information (count: 1635 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1635 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1323269	chr9:790234-790235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113373177	chr9:790247-790248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7860726	chr9:790256-790257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs367772014	chr9:790259-790260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200561668	chr9:790288-790289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186126704	chr9:790289-790290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113018711	chr9:790296-790297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141251380	chr9:790303-790304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542989505	chr9:790328-790329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371660172	chr9:790332-790333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576799919	chr9:790341-790342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146280862	chr9:790343-790344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1323268	chr9:790363-790364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573388049	chr9:790395-790396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189130963	chr9:790398-790399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562286372	chr9:790402-790403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182586932	chr9:790420-790421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144009220	chr9:790422-790423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145925819	chr9:790432-790433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576423600	chr9:790459-790460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552327422	chr9:790488-790489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559525421	chr9:790547-790548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559484989	chr9:790551-790552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187108856	chr9:790560-790561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548373494	chr9:790562-790563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568114094	chr9:790568-790569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528775118	chr9:790569-790570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537371781	chr9:790597-790598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56235229	chr9:790606-790607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570547197	chr9:790614-790615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565431648	chr9:790626-790627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7042438	chr9:790649-790650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139517118	chr9:790660-790661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190632273	chr9:790661-790662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149685132	chr9:790666-790667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560777013	chr9:790668-790669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145821141	chr9:790677-790678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575723113	chr9:790721-790722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116810038	chr9:790730-790731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564746250	chr9:790763-790764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576957018	chr9:790769-790770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145552835	chr9:790793-790794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559045368	chr9:790814-790815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528191977	chr9:790844-790845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547948332	chr9:790854-790855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561937305	chr9:790857-790858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530604967	chr9:790859-790860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114864554	chr9:790860-790861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182930304	chr9:790871-790872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570411353	chr9:790882-790883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	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
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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	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	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:786400-791600	Weak transcription	Placenta	Placenta
2	chr9:787000-792200	Weak transcription	HepG2	liver
3	chr9:791600-792400	Enhancers	Placenta	Placenta
4	chr9:792200-792600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:792200-792600	Enhancers	Fetal Lung	lung
6	chr9:792200-792600	Enhancers	Lung	lung
7	chr9:792200-792800	Flanking Active TSS	HepG2	liver
8	chr9:792200-793400	Enhancers	Adipose Nuclei	Adipose
9	chr9:792400-793000	Enhancers	Liver	Liver
10	chr9:792400-793200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:792400-793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:792600-795800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:792800-793400	Enhancers	HepG2	liver
14	chr9:793400-798400	Weak transcription	HepG2	liver
15	chr9:794600-809600	Weak transcription	Right Atrium	heart
16	chr9:795800-796000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:796000-796200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:798400-799400	Enhancers	HepG2	liver
19	chr9:800400-801400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:800400-801400	Enhancers	HUVEC	blood vessel
21	chr9:800400-801600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:800400-802000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:800400-802400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:800600-800800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:800600-801400	Enhancers	NHEK	skin
26	chr9:800600-802800	Enhancers	NH-A	brain
27	chr9:801000-801400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:801000-801600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:801000-801800	Enhancers	Hela-S3	cervix
30	chr9:801000-802000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:801200-802400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr9:801200-802400	Enhancers	Fetal Kidney	kidney
33	chr9:801200-802400	Enhancers	Osteobl	bone
34	chr9:801400-801600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:801400-801600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:801400-802200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr9:801400-802400	Flanking Active TSS	NHEK	skin
38	chr9:801400-802800	Enhancers	HMEC	breast
39	chr9:801400-803600	Flanking Active TSS	HUVEC	blood vessel
40	chr9:801600-801800	Enhancers	Duodenum Mucosa	Duodenum
41	chr9:801600-802000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:801600-802000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:801600-802000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:801600-802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:801600-802600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr9:801800-802200	Active TSS	Aorta	Aorta
47	chr9:801800-802400	Weak transcription	Hela-S3	cervix
48	chr9:802000-802400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:802000-802400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr9:802000-802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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