Variant report

Variant	nsv613619
Chromosome Location	chr9:13510394-13593125
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

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

No data

Extended variants
information (count: 3704 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3704 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12684544	chr9:13510394-13510395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573220021	chr9:13510416-13510417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115255133	chr9:13510419-13510420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374841710	chr9:13510429-13510430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565399890	chr9:13510450-13510451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376340714	chr9:13510482-13510483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530689696	chr9:13510532-13510533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550803248	chr9:13510533-13510534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561188848	chr9:13510549-13510550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372527127	chr9:13510578-13510579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575860515	chr9:13510613-13510614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375129939	chr9:13510628-13510629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72708348	chr9:13510637-13510638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183716283	chr9:13510646-13510647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112957168	chr9:13510652-13510653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200808014	chr9:13510665-13510666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551829464	chr9:13510666-13510667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542402183	chr9:13510680-13510681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564954461	chr9:13510687-13510688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568628630	chr9:13510747-13510748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537210715	chr9:13510754-13510755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557278170	chr9:13510775-13510776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574213285	chr9:13510794-13510795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536526121	chr9:13510831-13510832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370422572	chr9:13510852-13510853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553655628	chr9:13510896-13510897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189256297	chr9:13510906-13510907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545433552	chr9:13510907-13510908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117175723	chr9:13510909-13510910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144660644	chr9:13510923-13510924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573467275	chr9:13510943-13510944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548228472	chr9:13510990-13510991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568230080	chr9:13510998-13510999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560917362	chr9:13511005-13511006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145759834	chr9:13511052-13511053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201277168	chr9:13511066-13511067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373555483	chr9:13511067-13511068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193290710	chr9:13511113-13511114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7851430	chr9:13511141-13511142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148957418	chr9:13511187-13511188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71331548	chr9:13511243-13511244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398087157	chr9:13511249-13511250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398010331	chr9:13511250-13511251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113136843	chr9:13511275-13511276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375277544	chr9:13511291-13511292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548298139	chr9:13511295-13511296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185147057	chr9:13511310-13511311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529545315	chr9:13511331-13511332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190249194	chr9:13511339-13511340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549118655	chr9:13511340-13511341	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:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13493000-13526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:13508400-13512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:13509200-13513800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:13509400-13513200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:13509600-13510800	Weak transcription	Fetal Lung	lung
6	chr9:13509600-13511800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:13509600-13512200	Weak transcription	Right Atrium	heart
8	chr9:13510600-13511200	Enhancers	Fetal Heart	heart
9	chr9:13510800-13511000	Enhancers	Psoas Muscle	Psoas
10	chr9:13510800-13512000	Enhancers	Fetal Lung	lung
11	chr9:13511200-13522200	Weak transcription	Psoas Muscle	Psoas
12	chr9:13511600-13514400	Enhancers	Fetal Stomach	stomach
13	chr9:13511800-13512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:13511800-13514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:13511800-13515000	Enhancers	Fetal Muscle Leg	muscle
16	chr9:13512000-13512200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:13512000-13513600	Weak transcription	Fetal Lung	lung
18	chr9:13512200-13512400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:13512200-13512400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr9:13512200-13512400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:13512200-13512400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:13512200-13512400	Enhancers	Esophagus	oesophagus
23	chr9:13512200-13512600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:13512200-13512600	Enhancers	Placenta	Placenta
25	chr9:13512200-13512600	Enhancers	HMEC	breast
26	chr9:13512200-13513000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:13512200-13513000	Enhancers	Left Ventricle	heart
28	chr9:13512200-13513000	Enhancers	Right Atrium	heart
29	chr9:13512200-13513200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:13512200-13513200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:13512200-13513600	Enhancers	NHEK	skin
32	chr9:13512200-13514400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:13512200-13514400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:13512200-13514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:13512400-13513000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:13512400-13513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:13512400-13513400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:13512400-13513800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:13512400-13513800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:13512600-13513000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:13512600-13513000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr9:13512600-13513000	Weak transcription	Placenta	Placenta
43	chr9:13512600-13513000	Weak transcription	HMEC	breast
44	chr9:13512600-13513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:13512600-13513800	Enhancers	Adipose Nuclei	Adipose
46	chr9:13512600-13513800	Weak transcription	Esophagus	oesophagus
47	chr9:13512600-13514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:13512800-13513000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:13512800-13513000	Enhancers	Fetal Muscle Trunk	muscle
50	chr9:13513000-13513400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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