Variant report

Variant	nsv892585
Chromosome Location	chr9:13508282-13621142
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13560536..13563075-chr9:13563934..13566420,2	K562	blood:
2	chr9:13589369..13591855-chr9:13595557..13598165,2	K562	blood:
3	chr9:13550310..13553945-chr9:13554809..13558121,4	K562	blood:
4	chr9:13550310..13553945-chr9:13554809..13558121,4	K562	blood:
5	chr9:13514382..13516757-chr9:13516981..13518657,2	K562	blood:
6	chr9:13520170..13523005-chr9:13523892..13526074,2	K562	blood:
7	chr9:13510501..13511172-chr9:14406347..14406882,2	MCF-7	breast:
8	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
9	chr9:13486936..13489279-chr9:13509776..13512119,2	MCF-7	breast:
10	chr9:13507583..13509669-chr9:13514762..13516850,2	MCF-7	breast:
11	chr9:13550018..13552720-chr9:13556201..13558121,2	K562	blood:
12	chr9:13560536..13563075-chr9:13563934..13566420,2	K562	blood:
13	chr9:13514382..13516757-chr9:13517157..13519868,2	K562	blood:
14	chr9:13559454..13562026-chr9:13563407..13566292,2	K562	blood:
15	chr9:13559454..13562026-chr9:13563407..13566292,2	K562	blood:
16	chr9:13514382..13516757-chr9:13517157..13519868,2	K562	blood:
17	chr9:13589369..13591855-chr9:13595557..13598165,2	K562	blood:
18	chr9:13520170..13523005-chr9:13523892..13526074,2	K562	blood:
19	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
20	chr9:13514382..13516757-chr9:13516981..13518657,2	K562	blood:
21	chr9:13550018..13552720-chr9:13556201..13558121,2	K562	blood:
22	chr9:13507583..13509669-chr9:13514762..13516850,2	MCF-7	breast:

No data

Extended variants
information (count: 5095 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:5095 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3737150	chr9:13508282-13508283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs186503142	chr9:13508306-13508307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78610799	chr9:13508318-13508319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555542297	chr9:13508324-13508325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3737151	chr9:13508344-13508345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534909526	chr9:13508370-13508371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3737152	chr9:13508377-13508378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56207613	chr9:13508403-13508404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543467144	chr9:13508416-13508417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550284362	chr9:13508445-13508446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148440887	chr9:13508479-13508480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573781830	chr9:13508496-13508497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191175918	chr9:13508525-13508526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542402767	chr9:13508535-13508536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372160913	chr9:13508585-13508586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375091173	chr9:13508603-13508604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562297003	chr9:13508609-13508610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386414472	chr9:13508610-13508611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527913570	chr9:13508614-13508615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202191371	chr9:13508615-13508616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200408072	chr9:13508616-13508617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548047578	chr9:13508623-13508624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142377255	chr9:13508641-13508642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570350079	chr9:13508651-13508652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372613879	chr9:13508661-13508662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569768697	chr9:13508673-13508674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535942310	chr9:13508681-13508682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549251487	chr9:13508685-13508686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565855559	chr9:13508744-13508745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534547632	chr9:13508745-13508746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375725982	chr9:13508791-13508792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558005750	chr9:13508795-13508796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578012093	chr9:13508835-13508836	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529313133	chr9:13508861-13508862	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536995706	chr9:13508925-13508926	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556991403	chr9:13508927-13508928	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78119457	chr9:13508945-13508946	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77394653	chr9:13508976-13508977	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79930374	chr9:13508985-13508986	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572571461	chr9:13509010-13509011	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541278955	chr9:13509064-13509065	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10961095	chr9:13509087-13509088	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183403444	chr9:13509106-13509107	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534915777	chr9:13509166-13509167	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563333849	chr9:13509177-13509178	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1413364	chr9:13509181-13509182	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1413365	chr9:13509186-13509187	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566065171	chr9:13509212-13509213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139393887	chr9:13509235-13509236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551603343	chr9:13509265-13509266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13493000-13526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:13507000-13509600	Enhancers	Fetal Lung	lung
3	chr9:13507600-13508800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:13508000-13508400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:13508400-13512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:13508800-13509200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:13509200-13509600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:13509200-13513800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:13509400-13509600	Enhancers	Right Atrium	heart
10	chr9:13509400-13513200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:13509600-13510800	Weak transcription	Fetal Lung	lung
12	chr9:13509600-13511800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:13509600-13512200	Weak transcription	Right Atrium	heart
14	chr9:13510600-13511200	Enhancers	Fetal Heart	heart
15	chr9:13510800-13511000	Enhancers	Psoas Muscle	Psoas
16	chr9:13510800-13512000	Enhancers	Fetal Lung	lung
17	chr9:13511200-13522200	Weak transcription	Psoas Muscle	Psoas
18	chr9:13511600-13514400	Enhancers	Fetal Stomach	stomach
19	chr9:13511800-13512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:13511800-13514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:13511800-13515000	Enhancers	Fetal Muscle Leg	muscle
22	chr9:13512000-13512200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:13512000-13513600	Weak transcription	Fetal Lung	lung
24	chr9:13512200-13512400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:13512200-13512400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:13512200-13512400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:13512200-13512400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:13512200-13512400	Enhancers	Esophagus	oesophagus
29	chr9:13512200-13512600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:13512200-13512600	Enhancers	Placenta	Placenta
31	chr9:13512200-13512600	Enhancers	HMEC	breast
32	chr9:13512200-13513000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:13512200-13513000	Enhancers	Left Ventricle	heart
34	chr9:13512200-13513000	Enhancers	Right Atrium	heart
35	chr9:13512200-13513200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:13512200-13513200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:13512200-13513600	Enhancers	NHEK	skin
38	chr9:13512200-13514400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:13512200-13514400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:13512200-13514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr9:13512400-13513000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:13512400-13513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:13512400-13513400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:13512400-13513800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr9:13512400-13513800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:13512600-13513000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:13512600-13513000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr9:13512600-13513000	Weak transcription	Placenta	Placenta
49	chr9:13512600-13513000	Weak transcription	HMEC	breast
50	chr9:13512600-13513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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