Variant report

Variant	nsv892581
Chromosome Location	chr9:13085379-13120380
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13099537..13101965-chr9:13137180..13139095,2	MCF-7	breast:
2	chr9:13085685..13087546-chr9:13092734..13094499,2	MCF-7	breast:
3	chr9:13092848..13095853-chr9:14312583..14315715,3	MCF-7	breast:
4	chr9:13106506..13109956-chr9:13112582..13115100,3	K562	blood:
5	chr9:13096095..13097795-chr9:13277680..13279580,2	MCF-7	breast:
6	chr9:13093620..13095792-chr9:13098739..13101661,2	MCF-7	breast:
7	chr9:13034942..13035837-chr9:13088355..13089237,4	MCF-7	breast:
8	chr9:13106506..13109956-chr9:13112582..13115100,3	K562	blood:
9	chr9:13091674..13093219-chr9:13093470..13095334,2	MCF-7	breast:
10	chr9:13056729..13057438-chr9:13089019..13089759,2	MCF-7	breast:
11	chr9:13083897..13086773-chr9:13277976..13279924,2	MCF-7	breast:
12	chr9:13033916..13034844-chr9:13088403..13089550,10	MCF-7	breast:
13	chr9:13085685..13087546-chr9:13092734..13094499,2	MCF-7	breast:
14	chr9:13091674..13093219-chr9:13093470..13095334,2	MCF-7	breast:
15	chr9:13034030..13034837-chr9:13088503..13089360,4	K562	blood:
16	chr9:13093620..13095792-chr9:13098739..13101661,2	MCF-7	breast:
17	chr9:12794502..12796197-chr9:13084693..13086368,2	MCF-7	breast:
18	chr9:13105793..13107889-chr9:13185268..13188197,2	K562	blood:
19	chr9:13089285..13089789-chr9:13424262..13424942,2	MCF-7	breast:
20	chr9:13036362..13039283-chr9:13086631..13088810,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234740	chromatin interactions
ENSG00000107186	chromatin interactions
ENSG00000147862	chromatin interactions

Extended variants
information (count: 1598 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7021037	chr9:13085379-13085380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533320383	chr9:13085390-13085391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7021047	chr9:13085397-13085398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs569617760	chr9:13085414-13085415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535559526	chr9:13085416-13085417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140197960	chr9:13085417-13085418	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565376603	chr9:13085425-13085426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537341850	chr9:13085434-13085435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79456183	chr9:13085470-13085471	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557583543	chr9:13085472-13085473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7021577	chr9:13085555-13085556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184696071	chr9:13085609-13085610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs4316236	chr9:13085657-13085658	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs188584833	chr9:13085756-13085757	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181382560	chr9:13085772-13085773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185174648	chr9:13085797-13085798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542379030	chr9:13085822-13085823	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562057043	chr9:13085823-13085824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs527735104	chr9:13085838-13085839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541442601	chr9:13085840-13085841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562933061	chr9:13085854-13085855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533695075	chr9:13085861-13085862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189933313	chr9:13085868-13085869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563935141	chr9:13085939-13085940	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530136905	chr9:13085946-13085947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10733250	chr9:13085954-13085955	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs80129473	chr9:13085955-13085956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567608152	chr9:13085966-13085967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548714516	chr9:13085981-13085982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10733251	chr9:13086041-13086042	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572952782	chr9:13086043-13086044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369391610	chr9:13086052-13086053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534278140	chr9:13086108-13086109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145323572	chr9:13086112-13086113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs59086689	chr9:13086123-13086124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536040641	chr9:13086124-13086125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs397767395	chr9:13086134-13086135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538871069	chr9:13086162-13086163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs71507364	chr9:13086167-13086168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs143850090	chr9:13086195-13086196	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35402925	chr9:13086196-13086197	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200603308	chr9:13086204-13086205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558461298	chr9:13086217-13086218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs386732815	chr9:13086247-13086248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537377591	chr9:13086250-13086251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs71486912	chr9:13086252-13086253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs10733252	chr9:13086253-13086254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs535953922	chr9:13086289-13086290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374541891	chr9:13086313-13086314	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555852926	chr9:13086320-13086321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13083000-13085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:13084400-13085800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:13084400-13088600	Weak transcription	Fetal Lung	lung
4	chr9:13084800-13088400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:13084800-13103400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:13085000-13088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:13085000-13088600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:13088000-13088400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:13088400-13088600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:13088400-13088800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:13088400-13088800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:13088400-13088800	Enhancers	Liver	Liver
13	chr9:13088600-13089000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:13088600-13089000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:13088600-13089000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:13088600-13089000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:13088600-13089000	Active TSS	Muscle Satellite Cultured Cells	--
18	chr9:13088600-13089000	Active TSS	Aorta	Aorta
19	chr9:13088600-13089000	Active TSS	Fetal Lung	lung
20	chr9:13088600-13089000	Active TSS	A549	lung
21	chr9:13088600-13089000	Active TSS	Osteobl	bone
22	chr9:13088600-13089200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:13088600-13089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:13088600-13089200	Enhancers	HUVEC	blood vessel
25	chr9:13088600-13089800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:13088800-13089000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:13088800-13089000	Active TSS	Fetal Kidney	kidney
28	chr9:13088800-13089200	Flanking Active TSS	Liver	Liver
29	chr9:13088800-13089200	Enhancers	NHLF	lung
30	chr9:13089000-13089200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:13089000-13089200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:13089000-13089200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:13089000-13089200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:13089000-13089200	Enhancers	Brain Hippocampus Middle	brain
35	chr9:13089000-13089200	Enhancers	Fetal Heart	heart
36	chr9:13089000-13089200	Enhancers	Fetal Intestine Small	intestine
37	chr9:13089000-13089200	Flanking Active TSS	Fetal Kidney	kidney
38	chr9:13089000-13089200	Flanking Active TSS	Fetal Lung	lung
39	chr9:13089000-13089200	Enhancers	A549	lung
40	chr9:13089000-13089400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:13089000-13089400	Enhancers	Aorta	Aorta
42	chr9:13089000-13089400	Enhancers	HSMM	muscle
43	chr9:13089000-13090800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:13089200-13089400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:13089200-13089400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:13089200-13089800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:13089200-13090800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:13089200-13090800	Weak transcription	HUVEC	blood vessel
49	chr9:13089200-13091000	Enhancers	Fetal Lung	lung
50	chr9:13089200-13091200	Enhancers	Liver	Liver

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