Variant report

Variant	nsv524264
Chromosome Location	chr9:16596071-16611692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:16154369..16155237-chr9:16601764..16602655,2	MCF-7	breast:

Extended variants
information (count: 702 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511622	chr9:16596071-16596072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556808075	chr9:16596085-16596086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578184165	chr9:16596110-16596111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4112791	chr9:16596140-16596141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534441838	chr9:16596173-16596174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369881888	chr9:16596251-16596252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560605154	chr9:16596256-16596257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572429880	chr9:16596356-16596357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554387336	chr9:16596362-16596363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376777574	chr9:16596387-16596388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12350242	chr9:16596419-16596420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531720065	chr9:16596422-16596423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549816847	chr9:16596435-16596436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186734418	chr9:16596442-16596443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546313060	chr9:16596444-16596445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532951725	chr9:16596454-16596455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551297298	chr9:16596484-16596485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386733127	chr9:16596487-16596488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534067024	chr9:16596488-16596489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113428922	chr9:16596518-16596519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567214955	chr9:16596572-16596573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537945612	chr9:16596606-16596607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112470835	chr9:16596634-16596635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138991844	chr9:16596635-16596636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113183721	chr9:16596643-16596644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143905271	chr9:16596679-16596680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572663847	chr9:16596688-16596689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543264449	chr9:16596689-16596690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554667616	chr9:16596715-16596716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576024354	chr9:16596752-16596753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140177644	chr9:16596758-16596759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565024265	chr9:16596780-16596781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112196301	chr9:16596799-16596800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544899031	chr9:16596825-16596826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375336066	chr9:16596852-16596853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527602444	chr9:16596908-16596909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549215345	chr9:16596972-16596973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562926896	chr9:16596978-16596979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567199440	chr9:16596981-16596982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372699447	chr9:16597017-16597018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527839203	chr9:16597036-16597037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531314713	chr9:16597105-16597106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13293135	chr9:16597106-16597107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78588308	chr9:16597107-16597108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549927162	chr9:16597145-16597146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77720890	chr9:16597153-16597154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538701768	chr9:16597174-16597175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554079552	chr9:16597211-16597212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576386023	chr9:16597218-16597219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536588996	chr9:16597229-16597230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16576000-16601600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:16576400-16601400	Weak transcription	NHDF-Ad	bronchial
3	chr9:16583000-16606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:16583200-16611200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:16586800-16604400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:16587400-16597200	Weak transcription	Fetal Stomach	stomach
7	chr9:16591400-16598600	Weak transcription	HSMM	muscle
8	chr9:16594600-16596600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:16594800-16596400	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:16594800-16596600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:16594800-16601800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:16594800-16601800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:16595000-16596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:16595000-16596600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:16595000-16596600	Weak transcription	Fetal Lung	lung
16	chr9:16595000-16597200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:16595000-16598000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:16595000-16598000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:16595000-16611200	Weak transcription	NHLF	lung
20	chr9:16595200-16597600	Enhancers	A549	lung
21	chr9:16595200-16598400	Weak transcription	Osteobl	bone
22	chr9:16595400-16597600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:16596000-16596800	Enhancers	Rectal Smooth Muscle	rectum
24	chr9:16596000-16598400	Weak transcription	Ovary	ovary
25	chr9:16596400-16597600	Enhancers	Colon Smooth Muscle	Colon
26	chr9:16596600-16597600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:16596600-16597800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:16596600-16597800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:16596600-16597800	Enhancers	Fetal Lung	lung
30	chr9:16596600-16598800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:16596800-16598400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:16597200-16597600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:16597200-16597600	Enhancers	Fetal Stomach	stomach
34	chr9:16597600-16598000	Weak transcription	A549	lung
35	chr9:16597600-16598200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:16597600-16598400	Weak transcription	Colon Smooth Muscle	Colon
37	chr9:16597600-16601400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:16597600-16604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:16597600-16610800	Weak transcription	Fetal Stomach	stomach
40	chr9:16597800-16598200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:16597800-16598200	Weak transcription	Fetal Lung	lung
42	chr9:16598000-16598800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:16598000-16599000	Enhancers	A549	lung
44	chr9:16598000-16599400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:16598200-16598800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:16598200-16598800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:16598200-16599400	Enhancers	Fetal Lung	lung
48	chr9:16598400-16598800	Enhancers	Rectal Smooth Muscle	rectum
49	chr9:16598400-16599000	Enhancers	Colon Smooth Muscle	Colon
50	chr9:16598400-16599000	Enhancers	Ovary	ovary

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