Variant report

Variant	nsv540067
Chromosome Location	chr9:13529680-13744602
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13550310..13553945-chr9:13554809..13558121,4	K562	blood:
2	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:
3	chr9:13686906..13689504-chr9:14312996..14314764,2	MCF-7	breast:
4	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:
5	chr9:13550310..13553945-chr9:13554809..13558121,4	K562	blood:
6	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:
7	chr9:13560536..13563075-chr9:13563934..13566420,2	K562	blood:
8	chr9:13446842..13447486-chr9:13688897..13689613,3	MCF-7	breast:
9	chr9:13550018..13552720-chr9:13556201..13558121,2	K562	blood:
10	chr9:13559454..13562026-chr9:13563407..13566292,2	K562	blood:
11	chr9:13550018..13552720-chr9:13556201..13558121,2	K562	blood:
12	chr9:13560536..13563075-chr9:13563934..13566420,2	K562	blood:
13	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:
14	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
15	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:
16	chr9:13559454..13562026-chr9:13563407..13566292,2	K562	blood:
17	chr9:13589369..13591855-chr9:13595557..13598165,2	K562	blood:
18	chr6:116274902..116275536-chr9:13688718..13689412,2	MCF-7	breast:
19	chr9:13589369..13591855-chr9:13595557..13598165,2	K562	blood:
20	chr9:13607383..13609479-chr9:13614274..13617159,2	MCF-7	breast:
21	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 8564 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:8564 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76064500	chr9:13529709-13529710	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571700969	chr9:13529724-13529725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371837203	chr9:13529730-13529731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112690854	chr9:13529732-13529733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs55778802	chr9:13529774-13529775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs141347092	chr9:13529779-13529780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557622009	chr9:13529834-13529835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376487528	chr9:13529882-13529883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs578151780	chr9:13529893-13529894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77065460	chr9:13529927-13529928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553179983	chr9:13529930-13529931	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368796935	chr9:13529973-13529974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186024104	chr9:13529975-13529976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558097172	chr9:13529987-13529988	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574917446	chr9:13530043-13530044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543858510	chr9:13530044-13530045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7470021	chr9:13530060-13530061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560831815	chr9:13530069-13530070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529839697	chr9:13530070-13530071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542847058	chr9:13530093-13530094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10809965	chr9:13530094-13530095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528777728	chr9:13530096-13530097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552115778	chr9:13530101-13530102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7870726	chr9:13530105-13530106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530929932	chr9:13530153-13530154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199683368	chr9:13530170-13530171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551011915	chr9:13530176-13530177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567644340	chr9:13530178-13530179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536781403	chr9:13530203-13530204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552876440	chr9:13530229-13530230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566347194	chr9:13530250-13530251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs933035	chr9:13530295-13530296	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145135412	chr9:13530395-13530396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574854217	chr9:13530400-13530401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111472681	chr9:13530452-13530453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537436504	chr9:13530472-13530473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554593485	chr9:13530482-13530483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1413359	chr9:13530487-13530488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1413360	chr9:13530515-13530516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545125988	chr9:13530577-13530578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559653974	chr9:13530578-13530579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573498610	chr9:13530581-13530582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138991168	chr9:13530587-13530588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190091698	chr9:13530592-13530593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35904117	chr9:13530671-13530672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531272272	chr9:13530678-13530679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1413361	chr9:13530680-13530681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550679402	chr9:13530696-13530697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs933034	chr9:13530711-13530712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530105678	chr9:13530752-13530753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Chordoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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	chr9:13529600-13530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:13529600-13530000	Enhancers	Esophagus	oesophagus
10	chr9:13529600-13530000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:13529600-13530000	Enhancers	HUVEC	blood vessel
12	chr9:13529600-13530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:13529600-13530400	Enhancers	Fetal Lung	lung
14	chr9:13529600-13530400	Enhancers	HSMMtube	muscle
15	chr9:13529800-13530000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:13529800-13530000	Enhancers	NH-A	brain
17	chr9:13529800-13531600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:13530000-13530400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:13530000-13530600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:13530000-13531400	Weak transcription	HUVEC	blood vessel
21	chr9:13530400-13531200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr9:13530400-13532000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:13530400-13532000	Weak transcription	HMEC	breast
24	chr9:13530400-13532400	Weak transcription	Fetal Lung	lung
25	chr9:13530600-13531200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:13530800-13531200	Enhancers	Brain Hippocampus Middle	brain
27	chr9:13530800-13531200	Enhancers	Fetal Brain Female	brain
28	chr9:13530800-13531400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:13531400-13532400	Enhancers	HUVEC	blood vessel
30	chr9:13532000-13532400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:13532000-13533000	Enhancers	HMEC	breast
32	chr9:13532200-13532800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:13532400-13532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:13532400-13532800	Flanking Active TSS	HUVEC	blood vessel
35	chr9:13532400-13533000	Enhancers	Fetal Lung	lung
36	chr9:13532800-13533400	Enhancers	HUVEC	blood vessel
37	chr9:13541600-13542800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:13544800-13545600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:13545000-13545600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:13545200-13545400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:13545200-13545600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr9:13545400-13564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:13545600-13547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:13545600-13547600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:13546600-13550800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:13547400-13550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:13547600-13547800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:13547600-13547800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:13547600-13548000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr9:13547600-13548800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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