Variant report

Variant	nsv528873
Chromosome Location	chr9:7163530-7177936
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7163757..7166355-chr9:7173278..7174995,2	MCF-7	breast:
2	chr9:7163757..7166355-chr9:7173278..7174995,2	MCF-7	breast:
3	chr9:7148888..7150780-chr9:7164097..7166257,2	K562	blood:
4	chr9:7166311..7168822-chr9:7171544..7173706,2	K562	blood:
5	chr9:7169706..7171250-chr9:7171522..7173272,2	K562	blood:
6	chr9:7166311..7168822-chr9:7171544..7173706,2	K562	blood:
7	chr9:7169706..7171250-chr9:7171522..7173272,2	K562	blood:
8	chr9:7168923..7170527-chr9:7184801..7187324,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-3	chr9:7177450-7178166	XLOC_007276
2	lnc-KDM4C-3	chr9:7177838-7178166	XLOC_007276

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KDM4C	hsa-miR-335-5p	chr9:7175374-7175381
2	KDM4C	hsa-miR-335-5p	chr9:7175359-7175381

Variant related genes	Relation type
LASS2	miRNA target sites

Extended variants
information (count: 713 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7032509	chr9:7163530-7163531	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575468156	chr9:7163555-7163556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542778308	chr9:7163556-7163557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561247109	chr9:7163608-7163609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528538760	chr9:7163609-7163610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368585066	chr9:7163610-7163611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540275891	chr9:7163636-7163637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145590706	chr9:7163659-7163660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532545880	chr9:7163660-7163661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7046542	chr9:7163686-7163687	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187093621	chr9:7163729-7163730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191125058	chr9:7163739-7163740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549117216	chr9:7163781-7163782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567260618	chr9:7163790-7163791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182683384	chr9:7163798-7163799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561488952	chr9:7163815-7163816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552790647	chr9:7163832-7163833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114962822	chr9:7163873-7163874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538750560	chr9:7163902-7163903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10758841	chr9:7163938-7163939	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs543034994	chr9:7163957-7163958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575505318	chr9:7163963-7163964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542855368	chr9:7163998-7163999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185078068	chr9:7164028-7164029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1556100	chr9:7164039-7164040	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10815532	chr9:7164061-7164062	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs189542030	chr9:7164073-7164074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145519353	chr9:7164086-7164087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544591602	chr9:7164111-7164112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563581264	chr9:7164113-7164114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532530902	chr9:7164136-7164137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549000240	chr9:7164161-7164162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376368832	chr9:7164167-7164168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551749209	chr9:7164178-7164179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528252574	chr9:7164214-7164215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571559195	chr9:7164248-7164249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182245488	chr9:7164253-7164254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138144085	chr9:7164263-7164264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563439128	chr9:7164322-7164323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538267681	chr9:7164345-7164346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113564814	chr9:7164350-7164351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55678699	chr9:7164358-7164359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569216949	chr9:7164374-7164375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368404944	chr9:7164376-7164377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10976080	chr9:7164382-7164383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556881913	chr9:7164425-7164426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10976081	chr9:7164438-7164439	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532242199	chr9:7164448-7164449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534113614	chr9:7164478-7164479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1556099	chr9:7164502-7164503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7135200-7164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:7147400-7174600	Weak transcription	NHEK	skin
5	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:7148600-7185400	Weak transcription	HMEC	breast
8	chr9:7148800-7164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:7149000-7165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:7149000-7165200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:7149200-7164800	Weak transcription	Liver	Liver
12	chr9:7149200-7165200	Weak transcription	Thymus	Thymus
13	chr9:7149400-7164600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:7149400-7165200	Weak transcription	Adipose Nuclei	Adipose
15	chr9:7149600-7172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:7149800-7172800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:7150400-7175800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:7150600-7165200	Weak transcription	GM12878-XiMat	blood
21	chr9:7150800-7164600	Weak transcription	Fetal Thymus	thymus
22	chr9:7150800-7164800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:7150800-7165000	Weak transcription	Esophagus	oesophagus
24	chr9:7150800-7165200	Weak transcription	Spleen	Spleen
25	chr9:7150800-7165400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr9:7150800-7169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:7150800-7172800	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:7151200-7164400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr9:7151200-7165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:7151200-7171000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:7151200-7173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr9:7151400-7165000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:7151400-7165000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr9:7151400-7165000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:7151600-7163800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr9:7151600-7164000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:7151600-7164400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:7151600-7164400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:7151800-7164600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:7151800-7165000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
42	chr9:7152000-7164000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:7152000-7165400	Weak transcription	Placenta	Placenta
44	chr9:7152000-7172600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:7154000-7165200	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:7154000-7165600	Weak transcription	Brain Substantia Nigra	brain
47	chr9:7154200-7165200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:7154400-7164400	Weak transcription	HepG2	liver
49	chr9:7154400-7165000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:7154400-7165200	Weak transcription	Fetal Intestine Large	intestine

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