Variant report

Variant	nsv520384
Chromosome Location	chr9:15066819-15083613
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41380667..41383523-chr9:15065470..15068471,3	K562	blood:
2	chr10:103123110..103126109-chr9:15066951..15068470,2	K562	blood:
3	chr17:41399132..41401887-chr9:15065450..15066950,2	K562	blood:
4	chr17:41380109..41382138-chr9:15066951..15068451,2	MCF-7	breast:
5	chr4:153844459..153845960-chr9:15065470..15068450,2	K562	blood:
6	chr17:41380280..41381950-chr9:15066950..15068451,3	MCF-7	breast:
7	chr17:41398994..41400824-chr9:15066951..15068451,2	K562	blood:
8	chr17:41462152..41463715-chr9:15065450..15066970,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000222414	chromatin interactions

Extended variants
information (count: 620 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4146765	chr9:15066819-15066820	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370569445	chr9:15066856-15066857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574903791	chr9:15066857-15066858	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4146764	chr9:15066888-15066889	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557626071	chr9:15066907-15066908	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192420527	chr9:15066918-15066919	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569596018	chr9:15066953-15066954	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546470593	chr9:15067009-15067010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564808499	chr9:15067011-15067012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531986153	chr9:15067035-15067036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148781035	chr9:15067040-15067041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183809224	chr9:15067071-15067072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187574918	chr9:15067125-15067126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141519848	chr9:15067134-15067135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192045011	chr9:15067138-15067139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13301813	chr9:15067159-15067160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563097315	chr9:15067183-15067184	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs13301963	chr9:15067185-15067186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs13283248	chr9:15067187-15067188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530628191	chr9:15067188-15067189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368473918	chr9:15067212-15067213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570744212	chr9:15067218-15067219	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150912270	chr9:15067264-15067265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548183836	chr9:15067268-15067269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182699273	chr9:15067322-15067323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187027759	chr9:15067329-15067330	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192685585	chr9:15067339-15067340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557491788	chr9:15067340-15067341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541459199	chr9:15067414-15067415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575864478	chr9:15067464-15067465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs35167099	chr9:15067500-15067501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs55920327	chr9:15067513-15067514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573518196	chr9:15067554-15067555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs56025322	chr9:15067562-15067563	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563544931	chr9:15067595-15067596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7864574	chr9:15067602-15067603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574098330	chr9:15067603-15067604	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541484349	chr9:15067629-15067630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563061111	chr9:15067669-15067670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7849356	chr9:15067675-15067676	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552375282	chr9:15067693-15067694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564209629	chr9:15067698-15067699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184676219	chr9:15067700-15067701	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573630722	chr9:15067704-15067705	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568415297	chr9:15067710-15067711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535857156	chr9:15067719-15067720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs193285397	chr9:15067746-15067747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542346665	chr9:15067747-15067748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569404673	chr9:15067753-15067754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs4576517	chr9:15067758-15067759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15066400-15067000	Enhancers	Fetal Lung	lung
2	chr9:15066600-15068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:15066800-15067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:15067000-15067400	Weak transcription	Fetal Lung	lung
5	chr9:15067000-15070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:15067400-15068000	Enhancers	Fetal Lung	lung
7	chr9:15067600-15068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:15067600-15068600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:15068000-15070600	Weak transcription	Fetal Lung	lung
10	chr9:15068000-15071800	Enhancers	HUVEC	blood vessel
11	chr9:15068600-15069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:15069400-15069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:15069600-15071600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:15070600-15071000	Enhancers	Fetal Lung	lung
15	chr9:15071600-15071800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:15075600-15076200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:15076200-15080000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:15076200-15080000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:15077200-15084200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:15077400-15078200	Enhancers	Fetal Lung	lung
21	chr9:15078000-15082000	Enhancers	HepG2	liver
22	chr9:15078200-15078800	Flanking Active TSS	Fetal Lung	lung
23	chr9:15078400-15078600	Enhancers	Pancreas	Pancrea
24	chr9:15078800-15079800	Enhancers	Fetal Lung	lung
25	chr9:15078800-15080000	Weak transcription	Pancreas	Pancrea
26	chr9:15079800-15080200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:15079800-15085400	Weak transcription	Fetal Lung	lung
28	chr9:15080000-15080200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:15080000-15080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:15080000-15080600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:15080000-15080600	Enhancers	Pancreas	Pancrea
32	chr9:15080000-15080800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:15080200-15086400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:15080600-15081000	Weak transcription	Pancreas	Pancrea
35	chr9:15080800-15081400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:15081000-15082400	Enhancers	Pancreas	Pancrea
37	chr9:15081400-15081600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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