Variant report

Variant	nsv892029
Chromosome Location	chr9:1453731-1486005
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	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
2	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
3	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
4	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
5	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
6	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
7	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
8	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
9	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
10	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
11	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
12	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
13	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
14	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:

No data

Extended variants
information (count: 1669 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1669 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1332004	chr9:1453731-1453732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186031759	chr9:1453740-1453741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150015227	chr9:1453753-1453754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189960234	chr9:1453767-1453768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73389924	chr9:1453771-1453772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534959348	chr9:1453779-1453780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555252591	chr9:1453824-1453825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537042778	chr9:1453844-1453845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376785428	chr9:1453847-1453848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375950952	chr9:1453849-1453850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576911431	chr9:1453859-1453860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546293856	chr9:1453882-1453883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10961519	chr9:1453904-1453905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558442190	chr9:1453919-1453920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572211196	chr9:1453920-1453921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117625095	chr9:1453939-1453940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368509414	chr9:1453947-1453948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182545939	chr9:1453967-1453968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79957134	chr9:1453983-1453984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551761463	chr9:1453990-1453991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543424491	chr9:1453999-1454000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72690621	chr9:1454007-1454008	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532077873	chr9:1454020-1454021	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371931216	chr9:1454031-1454032	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552252055	chr9:1454034-1454035	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185666935	chr9:1454069-1454070	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565202355	chr9:1454076-1454077	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528674989	chr9:1454082-1454083	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569077660	chr9:1454100-1454101	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548419478	chr9:1454105-1454106	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202013604	chr9:1454142-1454143	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190470899	chr9:1454143-1454144	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58729507	chr9:1454144-1454145	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373637056	chr9:1454195-1454196	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4142436	chr9:1454200-1454201	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs556903128	chr9:1454212-1454213	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74570898	chr9:1454220-1454221	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145221760	chr9:1454250-1454251	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183583357	chr9:1454291-1454292	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188971940	chr9:1454293-1454294	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541220375	chr9:1454325-1454326	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193121864	chr9:1454330-1454331	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182672430	chr9:1454344-1454345	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576426576	chr9:1454357-1454358	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186824958	chr9:1454379-1454380	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563225659	chr9:1454392-1454393	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542111915	chr9:1454404-1454405	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs10810152	chr9:1454419-1454420	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148878400	chr9:1454479-1454480	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs559393931	chr9:1454484-1454485	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1452800-1455400	Enhancers	Adipose Nuclei	Adipose
2	chr9:1453600-1454800	Enhancers	Brain Substantia Nigra	brain
3	chr9:1453600-1455400	Enhancers	HepG2	liver
4	chr9:1453800-1454400	Enhancers	Pancreas	Pancrea
5	chr9:1453800-1454600	Enhancers	Brain Anterior Caudate	brain
6	chr9:1453800-1455000	Enhancers	Brain Cingulate Gyrus	brain
7	chr9:1453800-1455000	Enhancers	Brain Hippocampus Middle	brain
8	chr9:1453800-1455000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr9:1453800-1455000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:1454000-1454600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:1454000-1455000	Enhancers	Brain Angular Gyrus	brain
12	chr9:1454000-1455000	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1454400-1454800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:1454600-1454800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:1454800-1455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:1454800-1456200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:1455000-1455600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:1455000-1456200	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:1455000-1457200	Enhancers	HSMMtube	muscle
20	chr9:1455400-1460400	Weak transcription	HepG2	liver
21	chr9:1455600-1456000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:1456200-1457000	Enhancers	Fetal Muscle Leg	muscle
23	chr9:1456400-1456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:1456800-1457000	Enhancers	NHEK	skin
25	chr9:1457200-1458200	Weak transcription	NHEK	skin
26	chr9:1458200-1458600	Enhancers	HSMM	muscle
27	chr9:1458200-1459000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:1458200-1459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:1458200-1459400	Enhancers	NHEK	skin
30	chr9:1458400-1459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:1459200-1459400	Enhancers	HSMMtube	muscle
32	chr9:1460400-1460800	Enhancers	HepG2	liver
33	chr9:1460600-1460800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr9:1461000-1462600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:1461800-1462200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:1461800-1462800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:1462600-1462800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:1463000-1464400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:1463600-1463800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
41	chr9:1469000-1472000	Enhancers	GM12878-XiMat	blood
42	chr9:1479000-1479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:1479000-1479400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links