Variant report

Variant	nsv1026786
Chromosome Location	chr9:13530105-13627116
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13589369..13591855-chr9:13595557..13598165,2	K562	blood:
2	chr9:13550018..13552720-chr9:13556201..13558121,2	K562	blood:
3	chr9:13560536..13563075-chr9:13563934..13566420,2	K562	blood:
4	chr9:13560536..13563075-chr9:13563934..13566420,2	K562	blood:
5	chr9:13589369..13591855-chr9:13595557..13598165,2	K562	blood:
6	chr9:13550310..13553945-chr9:13554809..13558121,4	K562	blood:
7	chr9:13559454..13562026-chr9:13563407..13566292,2	K562	blood:
8	chr9:13550018..13552720-chr9:13556201..13558121,2	K562	blood:
9	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
10	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
11	chr9:13559454..13562026-chr9:13563407..13566292,2	K562	blood:
12	chr9:13550310..13553945-chr9:13554809..13558121,4	K562	blood:

No data

Extended variants
information (count: 4099 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:4099 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7870726	chr9:13530105-13530106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530929932	chr9:13530153-13530154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199683368	chr9:13530170-13530171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551011915	chr9:13530176-13530177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567644340	chr9:13530178-13530179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536781403	chr9:13530203-13530204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552876440	chr9:13530229-13530230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566347194	chr9:13530250-13530251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs933035	chr9:13530295-13530296	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145135412	chr9:13530395-13530396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574854217	chr9:13530400-13530401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111472681	chr9:13530452-13530453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537436504	chr9:13530472-13530473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554593485	chr9:13530482-13530483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1413359	chr9:13530487-13530488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1413360	chr9:13530515-13530516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545125988	chr9:13530577-13530578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559653974	chr9:13530578-13530579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573498610	chr9:13530581-13530582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138991168	chr9:13530587-13530588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190091698	chr9:13530592-13530593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35904117	chr9:13530671-13530672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531272272	chr9:13530678-13530679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1413361	chr9:13530680-13530681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550679402	chr9:13530696-13530697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs933034	chr9:13530711-13530712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530105678	chr9:13530752-13530753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547094780	chr9:13530782-13530783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72708389	chr9:13530793-13530794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538457613	chr9:13530815-13530816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551996575	chr9:13530858-13530859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568810858	chr9:13530877-13530878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201717327	chr9:13530879-13530880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550348027	chr9:13530892-13530893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554248986	chr9:13530927-13530928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574387154	chr9:13530967-13530968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533621506	chr9:13530980-13530981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35590312	chr9:13530982-13530983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567552918	chr9:13531008-13531009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7874995	chr9:13531019-13531020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573433724	chr9:13531026-13531027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545607683	chr9:13531093-13531094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565526017	chr9:13531120-13531121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372593530	chr9:13531121-13531122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368496946	chr9:13531184-13531185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182562133	chr9:13531203-13531204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115982892	chr9:13531205-13531206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74578605	chr9:13531213-13531214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1079934	chr9:13531214-13531215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113658930	chr9:13531215-13531216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13527800-13532200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:13528800-13536000	Weak transcription	Pancreas	Pancrea
3	chr9:13529200-13530400	Enhancers	HMEC	breast
4	chr9:13529200-13530400	Enhancers	NHEK	skin
5	chr9:13529200-13531000	Enhancers	Fetal Muscle Leg	muscle
6	chr9:13529400-13530200	Enhancers	HSMM	muscle
7	chr9:13529400-13530400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:13529600-13530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:13529600-13530400	Enhancers	Fetal Lung	lung
10	chr9:13529600-13530400	Enhancers	HSMMtube	muscle
11	chr9:13529800-13531600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:13530000-13530400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:13530000-13530600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:13530000-13531400	Weak transcription	HUVEC	blood vessel
15	chr9:13530400-13531200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:13530400-13532000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:13530400-13532000	Weak transcription	HMEC	breast
18	chr9:13530400-13532400	Weak transcription	Fetal Lung	lung
19	chr9:13530600-13531200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:13530800-13531200	Enhancers	Brain Hippocampus Middle	brain
21	chr9:13530800-13531200	Enhancers	Fetal Brain Female	brain
22	chr9:13530800-13531400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:13531400-13532400	Enhancers	HUVEC	blood vessel
24	chr9:13532000-13532400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:13532000-13533000	Enhancers	HMEC	breast
26	chr9:13532200-13532800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:13532400-13532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:13532400-13532800	Flanking Active TSS	HUVEC	blood vessel
29	chr9:13532400-13533000	Enhancers	Fetal Lung	lung
30	chr9:13532800-13533400	Enhancers	HUVEC	blood vessel
31	chr9:13541600-13542800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:13544800-13545600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:13545000-13545600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:13545200-13545400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:13545200-13545600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:13545400-13564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:13545600-13547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:13545600-13547600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:13546600-13550800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:13547400-13550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:13547600-13547800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:13547600-13547800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:13547600-13548000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:13547600-13548800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:13547800-13548400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:13547800-13548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr9:13548400-13549000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:13548600-13548800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:13548800-13550800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:13550800-13551000	Enhancers	HUES48 Cell Line	embryonic stem cell

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