Variant report

Variant	nsv1028923
Chromosome Location	chr9:16519711-16547863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:16519927..16521803-chr9:16525394..16528325,2	K562	blood:
2	chr9:16518671..16520605-chr9:16526925..16528585,2	MCF-7	breast:
3	chr9:16519927..16521803-chr9:16525394..16528325,2	K562	blood:
4	chr9:16520489..16522214-chr9:16551948..16553682,2	MCF-7	breast:
5	chr9:16518671..16520605-chr9:16526925..16528585,2	MCF-7	breast:

Extended variants
information (count: 1167 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7044870	chr9:16519711-16519712	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555088834	chr9:16519724-16519725	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147449837	chr9:16519728-16519729	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186686851	chr9:16519781-16519782	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386733115	chr9:16519886-16519887	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557590316	chr9:16519916-16519917	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10756757	chr9:16519926-16519927	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs114165849	chr9:16519931-16519932	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375333116	chr9:16519954-16519955	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60889821	chr9:16519991-16519992	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574280565	chr9:16520029-16520030	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544923277	chr9:16520045-16520046	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148120837	chr9:16520047-16520048	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141883524	chr9:16520050-16520051	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12345489	chr9:16520074-16520075	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12345513	chr9:16520103-16520104	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527813708	chr9:16520121-16520122	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150573616	chr9:16520125-16520126	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567919708	chr9:16520141-16520142	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191101109	chr9:16520158-16520159	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550618923	chr9:16520241-16520242	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569105283	chr9:16520262-16520263	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539331923	chr9:16520272-16520273	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376999552	chr9:16520287-16520288	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557770211	chr9:16520288-16520289	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184778851	chr9:16520300-16520301	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62540636	chr9:16520310-16520311	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139568195	chr9:16520318-16520319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574293017	chr9:16520360-16520361	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544782548	chr9:16520439-16520440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563058551	chr9:16520463-16520464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187619248	chr9:16520482-16520483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545358775	chr9:16520486-16520487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73417447	chr9:16520491-16520492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77585689	chr9:16520495-16520496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117820357	chr9:16520496-16520497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561015548	chr9:16520521-16520522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529075888	chr9:16520524-16520525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536747656	chr9:16520550-16520551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149707065	chr9:16520555-16520556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541540637	chr9:16520559-16520560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561771625	chr9:16520596-16520597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377047628	chr9:16520608-16520609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551384446	chr9:16520613-16520614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566476606	chr9:16520618-16520619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370972031	chr9:16520624-16520625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527282039	chr9:16520635-16520636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10962472	chr9:16520681-16520682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555514688	chr9:16520686-16520687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567338681	chr9:16520704-16520705	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:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16515600-16522000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:16515600-16532600	Weak transcription	Aorta	Aorta
3	chr9:16516200-16521200	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:16516200-16521600	Weak transcription	HSMMtube	muscle
5	chr9:16516200-16521800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:16516200-16522000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:16516200-16522000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:16516200-16522000	Weak transcription	Left Ventricle	heart
9	chr9:16516200-16522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:16516200-16524800	Weak transcription	Lung	lung
11	chr9:16516400-16519800	Weak transcription	Right Atrium	heart
12	chr9:16516400-16521000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:16517000-16522000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:16517200-16520000	Weak transcription	NHDF-Ad	bronchial
15	chr9:16517200-16521400	Weak transcription	Brain Substantia Nigra	brain
16	chr9:16517200-16521400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:16517200-16521400	Weak transcription	HSMM	muscle
18	chr9:16517200-16522000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:16517200-16522000	Weak transcription	Fetal Thymus	thymus
20	chr9:16517200-16522000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:16517200-16526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:16517400-16520200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:16517600-16520000	Weak transcription	Fetal Stomach	stomach
24	chr9:16517600-16521200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:16517600-16521200	Weak transcription	NH-A	brain
26	chr9:16517600-16521600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:16517600-16521800	Weak transcription	Fetal Kidney	kidney
28	chr9:16517800-16520800	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:16517800-16521400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:16517800-16521400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:16518000-16520400	Weak transcription	Osteobl	bone
32	chr9:16518000-16521600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:16518000-16524200	Weak transcription	A549	lung
34	chr9:16518400-16520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:16518400-16521800	Weak transcription	HUVEC	blood vessel
36	chr9:16518600-16520000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:16518600-16520200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr9:16518600-16520800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:16518800-16520000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:16518800-16520200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:16518800-16520200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:16518800-16521000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:16518800-16524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:16519000-16520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:16519000-16520200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:16519000-16520800	Enhancers	Adipose Nuclei	Adipose
47	chr9:16519000-16523200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:16519200-16519800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:16519200-16520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:16519400-16519800	Enhancers	Rectal Smooth Muscle	rectum

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