Variant report

Variant	nsv892016
Chromosome Location	chr9:1057797-1100738
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:
2	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
3	chr9:1100638..1101499-chr9:1337048..1337780,3	MCF-7	breast:
4	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
5	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
6	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
7	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
8	chr9:1100620..1101481-chr9:1337009..1337893,4	MCF-7	breast:
9	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173253	chromatin interactions

Extended variants
information (count: 920 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10809097	chr9:1057797-1057798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377481578	chr9:1057799-1057800	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116503592	chr9:1057804-1057805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570785183	chr9:1057814-1057815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539448313	chr9:1057851-1057852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144462946	chr9:1057883-1057884	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146064360	chr9:1057894-1057895	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535636230	chr9:1057907-1057908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536268364	chr9:1057916-1057917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77292937	chr9:1057918-1057919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140009860	chr9:1057940-1057941	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149765954	chr9:1057941-1057942	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145778090	chr9:1057942-1057943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148530961	chr9:1057984-1057985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142190180	chr9:1057998-1057999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559652447	chr9:1058070-1058071	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377377308	chr9:1058078-1058079	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111633683	chr9:1058115-1058116	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559107899	chr9:1058123-1058124	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141450231	chr9:1058136-1058137	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561958735	chr9:1058143-1058144	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181534423	chr9:1058144-1058145	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551005757	chr9:1058190-1058191	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147001509	chr9:1058215-1058216	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540483277	chr9:1058231-1058232	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528040001	chr9:1058232-1058233	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73386599	chr9:1058244-1058245	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112294102	chr9:1058260-1058261	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567937914	chr9:1058307-1058308	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185885414	chr9:1058318-1058319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7874049	chr9:1058335-1058336	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371038616	chr9:1058336-1058337	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79389486	chr9:1058337-1058338	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538062278	chr9:1058338-1058339	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147568861	chr9:1058364-1058365	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570579272	chr9:1058369-1058370	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140739156	chr9:1058406-1058407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150083889	chr9:1058418-1058419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188644252	chr9:1058449-1058450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115421741	chr9:1058457-1058458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542066295	chr9:1058461-1058462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555376463	chr9:1058516-1058517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138552889	chr9:1058517-1058518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544089194	chr9:1058538-1058539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10809100	chr9:1058549-1058550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533276641	chr9:1058564-1058565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371459221	chr9:1058572-1058573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149270886	chr9:1058658-1058659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181133694	chr9:1058659-1058660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560156759	chr9:1058663-1058664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1054200-1058800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:1055200-1059200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:1056400-1059000	Enhancers	Brain Hippocampus Middle	brain
4	chr9:1056400-1059400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:1056800-1058600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:1056800-1058800	Enhancers	Brain Substantia Nigra	brain
7	chr9:1057000-1058200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr9:1057200-1058800	Weak transcription	Adipose Nuclei	Adipose
9	chr9:1057200-1058800	Enhancers	Brain Cingulate Gyrus	brain
10	chr9:1057400-1058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:1057600-1058000	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:1058000-1058400	Genic enhancers	Fetal Muscle Leg	muscle
13	chr9:1058200-1058400	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr9:1058200-1059200	Enhancers	Brain Angular Gyrus	brain
15	chr9:1058400-1063400	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:1058400-1065600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:1058800-1059000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:1058800-1059400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:1058800-1059400	Enhancers	Adipose Nuclei	Adipose
20	chr9:1059000-1059200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:1059200-1059400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:1059400-1059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:1063400-1063800	Enhancers	Fetal Muscle Leg	muscle
24	chr9:1063800-1064800	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:1065000-1065200	Enhancers	Fetal Muscle Leg	muscle
26	chr9:1065600-1065800	Enhancers	Fetal Muscle Trunk	muscle
27	chr9:1071000-1072000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr9:1072000-1072400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr9:1072400-1072600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr9:1072400-1072600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:1082600-1082800	Enhancers	NHDF-Ad	bronchial
32	chr9:1082800-1083000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:1082800-1084000	Active TSS	NHDF-Ad	bronchial
34	chr9:1083000-1083200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr9:1083000-1083200	Enhancers	Brain Hippocampus Middle	brain
36	chr9:1083000-1083400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:1083000-1083400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:1083000-1083800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:1083000-1084000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:1083000-1084200	Active TSS	Brain Cingulate Gyrus	brain
41	chr9:1083200-1083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:1083200-1083600	Active TSS	Fetal Muscle Trunk	muscle
43	chr9:1083200-1083800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:1083200-1083800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr9:1083200-1083800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:1083200-1083800	Active TSS	Adipose Nuclei	Adipose
47	chr9:1083200-1083800	Active TSS	Brain Hippocampus Middle	brain
48	chr9:1083200-1083800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr9:1083200-1083800	Active TSS	HSMM	muscle
50	chr9:1083200-1084000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links