Variant report

Variant	esv1825318
Chromosome Location	chr9:1054067-1121594
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	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
2	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
3	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
4	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
5	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
6	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:
7	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
8	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
9	chr9:1100638..1101499-chr9:1337048..1337780,3	MCF-7	breast:
10	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
11	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
12	chr9:1100620..1101481-chr9:1337009..1337893,4	MCF-7	breast:
13	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
14	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173253	chromatin interactions

Extended variants
information (count: 1356 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190451114	chr9:1054072-1054073	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs872343	chr9:1054080-1054081	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138058458	chr9:1054100-1054101	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs534438199	chr9:1054103-1054104	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539568268	chr9:1054148-1054149	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs553113815	chr9:1054169-1054170	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs572829903	chr9:1054180-1054181	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs541866615	chr9:1054185-1054186	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs561928872	chr9:1054279-1054280	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs36107423	chr9:1054292-1054293	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs575527869	chr9:1054316-1054317	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs544053055	chr9:1054340-1054341	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs34525650	chr9:1054342-1054343	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs577533512	chr9:1054346-1054347	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs6474552	chr9:1054362-1054363	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375405296	chr9:1054409-1054410	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199663003	chr9:1054424-1054425	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200578433	chr9:1054425-1054426	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181345671	chr9:1054426-1054427	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560218933	chr9:1054443-1054444	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529223686	chr9:1054505-1054506	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548983098	chr9:1054509-1054510	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574149587	chr9:1054526-1054527	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185646580	chr9:1054530-1054531	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189965018	chr9:1054531-1054532	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143476493	chr9:1054540-1054541	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551678859	chr9:1054541-1054542	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571851817	chr9:1054567-1054568	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182560541	chr9:1054575-1054576	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7856817	chr9:1054587-1054588	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556654991	chr9:1054617-1054618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572988484	chr9:1054646-1054647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371503856	chr9:1054664-1054665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55828934	chr9:1054669-1054670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555428700	chr9:1054678-1054679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114818946	chr9:1054693-1054694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544532006	chr9:1054697-1054698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147864354	chr9:1054701-1054702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564230667	chr9:1054721-1054722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577723539	chr9:1054777-1054778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187647838	chr9:1054798-1054799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547977950	chr9:1054824-1054825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150669984	chr9:1054826-1054827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529382136	chr9:1054890-1054891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548946092	chr9:1054901-1054902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562948567	chr9:1054902-1054903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531903338	chr9:1054978-1054979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10959107	chr9:1054991-1054992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571868745	chr9:1055007-1055008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527852483	chr9:1055039-1055040	Weak transcription 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:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1052400-1054200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:1052600-1054200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:1053000-1054400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:1053000-1054400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:1053200-1054400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
6	chr9:1053400-1054200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
7	chr9:1053800-1054600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
8	chr9:1054000-1054200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr9:1054000-1054200	Bivalent Enhancer	Brain Hippocampus Middle	brain
10	chr9:1054000-1054600	Active TSS	Fetal Muscle Trunk	muscle
11	chr9:1054000-1056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:1054200-1054600	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr9:1054200-1058800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:1054400-1055000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:1054600-1056000	Weak transcription	Adipose Nuclei	Adipose
16	chr9:1054600-1056200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:1054600-1056200	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:1055000-1055400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:1055200-1059200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:1055400-1057400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:1056000-1057200	Strong transcription	Adipose Nuclei	Adipose
22	chr9:1056200-1056600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:1056200-1057000	Genic enhancers	Fetal Muscle Leg	muscle
24	chr9:1056400-1059000	Enhancers	Brain Hippocampus Middle	brain
25	chr9:1056400-1059400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:1056600-1057000	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr9:1056600-1057200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr9:1056800-1057000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:1056800-1057200	Bivalent Enhancer	Brain Angular Gyrus	brain
30	chr9:1056800-1058600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:1056800-1058800	Enhancers	Brain Substantia Nigra	brain
32	chr9:1057000-1057600	Strong transcription	Fetal Muscle Leg	muscle
33	chr9:1057000-1058200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr9:1057200-1058800	Weak transcription	Adipose Nuclei	Adipose
35	chr9:1057200-1058800	Enhancers	Brain Cingulate Gyrus	brain
36	chr9:1057400-1058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:1057600-1058000	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:1058000-1058400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr9:1058200-1058400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr9:1058200-1059200	Enhancers	Brain Angular Gyrus	brain
41	chr9:1058400-1063400	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:1058400-1065600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr9:1058800-1059000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:1058800-1059400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:1058800-1059400	Enhancers	Adipose Nuclei	Adipose
46	chr9:1059000-1059200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:1059200-1059400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:1059400-1059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:1063400-1063800	Enhancers	Fetal Muscle Leg	muscle
50	chr9:1063800-1064800	Weak transcription	Fetal Muscle Leg	muscle

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