Variant report

Variant	nsv892191
Chromosome Location	chr9:7150997-7173752
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7168923..7170527-chr9:7184801..7187324,2	MCF-7	breast:
2	chr9:7149048..7151328-chr9:7152979..7155533,2	K562	blood:
3	chr9:7131849..7134386-chr9:7150388..7153232,2	K562	blood:
4	chr9:7166311..7168822-chr9:7171544..7173706,2	K562	blood:
5	chr9:7148888..7150780-chr9:7164097..7166257,2	K562	blood:
6	chr9:7149048..7151328-chr9:7152979..7155533,2	K562	blood:
7	chr9:7166311..7168822-chr9:7171544..7173706,2	K562	blood:
8	chr9:7163757..7166355-chr9:7173278..7174995,2	MCF-7	breast:
9	chr9:7169706..7171250-chr9:7171522..7173272,2	K562	blood:
10	chr9:7163757..7166355-chr9:7173278..7174995,2	MCF-7	breast:
11	chr9:7169706..7171250-chr9:7171522..7173272,2	K562	blood:

No data

Extended variants
information (count: 1173 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs913581	chr9:7150997-7150998	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538901660	chr9:7151007-7151008	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12683673	chr9:7151012-7151013	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs118091453	chr9:7151027-7151028	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555787273	chr9:7151056-7151057	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536446995	chr9:7151096-7151097	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554410429	chr9:7151126-7151127	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572588972	chr9:7151210-7151211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533561849	chr9:7151288-7151289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527648811	chr9:7151295-7151296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35266511	chr9:7151305-7151306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558093334	chr9:7151306-7151307	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546609916	chr9:7151343-7151344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577126141	chr9:7151369-7151370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35502660	chr9:7151380-7151381	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2381569	chr9:7151386-7151387	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187212051	chr9:7151412-7151413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532218809	chr9:7151414-7151415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563193845	chr9:7151430-7151431	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551965584	chr9:7151431-7151432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574973959	chr9:7151450-7151451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190440504	chr9:7151456-7151457	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181696380	chr9:7151457-7151458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527759675	chr9:7151464-7151465	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552621168	chr9:7151478-7151479	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564432865	chr9:7151495-7151496	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199623815	chr9:7151503-7151504	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186882988	chr9:7151510-7151511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550651302	chr9:7151516-7151517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569125844	chr9:7151534-7151535	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568665506	chr9:7151564-7151565	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190039119	chr9:7151569-7151570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182674184	chr9:7151581-7151582	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185069647	chr9:7151599-7151600	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189539556	chr9:7151600-7151601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182617096	chr9:7151602-7151603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576477358	chr9:7151606-7151607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537837839	chr9:7151634-7151635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369373960	chr9:7151648-7151649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556612700	chr9:7151649-7151650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575053883	chr9:7151662-7151663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542081458	chr9:7151663-7151664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560635912	chr9:7151783-7151784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112479213	chr9:7151825-7151826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141540678	chr9:7151845-7151846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77821421	chr9:7151916-7151917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564571945	chr9:7151940-7151941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372592991	chr9:7151941-7151942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531651936	chr9:7151950-7151951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550135726	chr9:7151976-7151977	Weak 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:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7104800-7153200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:7128000-7153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:7130200-7154800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:7130600-7152400	Weak transcription	Small Intestine	intestine
5	chr9:7135200-7164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:7136600-7153200	Weak transcription	HepG2	liver
7	chr9:7146600-7151000	Enhancers	Left Ventricle	heart
8	chr9:7146600-7151200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr9:7146800-7152000	Enhancers	Placenta	Placenta
10	chr9:7147200-7152400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:7147400-7152000	Weak transcription	NHLF	lung
13	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:7147400-7174600	Weak transcription	NHEK	skin
15	chr9:7147600-7151600	Strong transcription	Fetal Intestine Small	intestine
16	chr9:7147600-7153800	Weak transcription	Brain Germinal Matrix	brain
17	chr9:7147600-7155200	Enhancers	Fetal Heart	heart
18	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:7148200-7151200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr9:7148200-7151600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:7148400-7151600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr9:7148400-7152000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr9:7148400-7153400	Weak transcription	Aorta	Aorta
24	chr9:7148400-7153400	Weak transcription	Brain Anterior Caudate	brain
25	chr9:7148600-7151200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:7148600-7151600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr9:7148600-7152000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:7148600-7153200	Weak transcription	Pancreas	Pancrea
29	chr9:7148600-7161000	Weak transcription	Ovary	ovary
30	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:7148600-7185400	Weak transcription	HMEC	breast
32	chr9:7148800-7151600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr9:7148800-7151800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:7148800-7153200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:7148800-7153200	Weak transcription	Brain Substantia Nigra	brain
36	chr9:7148800-7153800	Weak transcription	Dnd41	blood
37	chr9:7148800-7154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:7148800-7164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:7149000-7151400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr9:7149000-7151400	Enhancers	Primary T cells from cord blood	blood
41	chr9:7149000-7151600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr9:7149000-7153600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:7149000-7165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:7149000-7165200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:7149200-7151000	Enhancers	Right Ventricle	heart
46	chr9:7149200-7151600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:7149200-7164800	Weak transcription	Liver	Liver
48	chr9:7149200-7165200	Weak transcription	Thymus	Thymus
49	chr9:7149400-7151400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr9:7149400-7153200	Weak transcription	Right Atrium	heart

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