Variant report

Variant	nsv892015
Chromosome Location	chr9:1056101-1097089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
2	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
3	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
4	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
5	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173253	chromatin interactions

Extended variants
information (count: 958 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7854435	chr9:1056101-1056102	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527977472	chr9:1056103-1056104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541703034	chr9:1056135-1056136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139750292	chr9:1056140-1056141	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530290818	chr9:1056154-1056155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566760422	chr9:1056169-1056170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73639841	chr9:1056172-1056173	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200344245	chr9:1056173-1056174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368061891	chr9:1056176-1056177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371620803	chr9:1056179-1056180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374105107	chr9:1056197-1056198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147915017	chr9:1056219-1056220	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140044845	chr9:1056222-1056223	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551354184	chr9:1056231-1056232	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150037258	chr9:1056234-1056235	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145393386	chr9:1056244-1056245	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117442751	chr9:1056250-1056251	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143412065	chr9:1056253-1056254	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567238365	chr9:1056257-1056258	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371109443	chr9:1056267-1056268	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536429516	chr9:1056272-1056273	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151137458	chr9:1056301-1056302	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140260278	chr9:1056308-1056309	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144231415	chr9:1056314-1056315	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145305702	chr9:1056319-1056320	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577840890	chr9:1056322-1056323	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137937636	chr9:1056327-1056328	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199884471	chr9:1056336-1056337	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201385986	chr9:1056348-1056349	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142530282	chr9:1056383-1056384	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576477121	chr9:1056391-1056392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538794732	chr9:1056394-1056395	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72703236	chr9:1056398-1056399	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138608089	chr9:1056402-1056403	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541457019	chr9:1056405-1056406	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149317681	chr9:1056412-1056413	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202082191	chr9:1056413-1056414	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199974594	chr9:1056420-1056421	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146546123	chr9:1056424-1056425	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368560020	chr9:1056450-1056451	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372851397	chr9:1056458-1056459	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377059611	chr9:1056469-1056470	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144648877	chr9:1056471-1056472	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371164792	chr9:1056477-1056478	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563777846	chr9:1056484-1056485	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140701396	chr9:1056516-1056517	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16928356	chr9:1056517-1056518	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147471809	chr9:1056532-1056533	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564642993	chr9:1056546-1056547	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527258854	chr9:1056547-1056548	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
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
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
Cancer	21272361	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1054000-1056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:1054200-1058800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:1054600-1056200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:1054600-1056200	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:1055200-1059200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:1055400-1057400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:1056000-1057200	Strong transcription	Adipose Nuclei	Adipose
8	chr9:1056200-1056600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr9:1056200-1057000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr9:1056400-1059000	Enhancers	Brain Hippocampus Middle	brain
11	chr9:1056400-1059400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:1056600-1057000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr9:1056600-1057200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
14	chr9:1056800-1057000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:1056800-1057200	Bivalent Enhancer	Brain Angular Gyrus	brain
16	chr9:1056800-1058600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:1056800-1058800	Enhancers	Brain Substantia Nigra	brain
18	chr9:1057000-1057600	Strong transcription	Fetal Muscle Leg	muscle
19	chr9:1057000-1058200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr9:1057200-1058800	Weak transcription	Adipose Nuclei	Adipose
21	chr9:1057200-1058800	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:1057400-1058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:1057600-1058000	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:1058000-1058400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr9:1058200-1058400	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr9:1058200-1059200	Enhancers	Brain Angular Gyrus	brain
27	chr9:1058400-1063400	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:1058400-1065600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:1058800-1059000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:1058800-1059400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:1058800-1059400	Enhancers	Adipose Nuclei	Adipose
32	chr9:1059000-1059200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:1059200-1059400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:1059400-1059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:1063400-1063800	Enhancers	Fetal Muscle Leg	muscle
36	chr9:1063800-1064800	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:1065000-1065200	Enhancers	Fetal Muscle Leg	muscle
38	chr9:1065600-1065800	Enhancers	Fetal Muscle Trunk	muscle
39	chr9:1071000-1072000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr9:1072000-1072400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr9:1072400-1072600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr9:1072400-1072600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr9:1082600-1082800	Enhancers	NHDF-Ad	bronchial
44	chr9:1082800-1083000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:1082800-1084000	Active TSS	NHDF-Ad	bronchial
46	chr9:1083000-1083200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:1083000-1083200	Enhancers	Brain Hippocampus Middle	brain
48	chr9:1083000-1083400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:1083000-1083400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:1083000-1083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links