Variant report

Variant	nsv528443
Chromosome Location	chr9:16570142-16581967
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	chr17:34853813..34854390-chr9:16572137..16572637,2	MCF-7	breast:

Extended variants
information (count: 505 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10962491	chr9:16570142-16570143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537328813	chr9:16570176-16570177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575339118	chr9:16570231-16570232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558858942	chr9:16570247-16570248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577437462	chr9:16570272-16570273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576918539	chr9:16570276-16570277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114109820	chr9:16570292-16570293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553150973	chr9:16570312-16570313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574467424	chr9:16570317-16570318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542095696	chr9:16570367-16570368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563886030	chr9:16570374-16570375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575723222	chr9:16570456-16570457	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546102425	chr9:16570474-16570475	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564396453	chr9:16570490-16570491	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114550484	chr9:16570515-16570516	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540227175	chr9:16570532-16570533	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112208267	chr9:16570549-16570550	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373746490	chr9:16570569-16570570	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150009678	chr9:16570573-16570574	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs559797322	chr9:16570590-16570591	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569853387	chr9:16570616-16570617	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556777310	chr9:16570662-16570663	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184089853	chr9:16570717-16570718	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs150939597	chr9:16570718-16570719	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552504436	chr9:16570731-16570732	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570757173	chr9:16570732-16570733	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189501819	chr9:16570753-16570754	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116149358	chr9:16570759-16570760	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552920372	chr9:16570761-16570762	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12339625	chr9:16570779-16570780	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535561437	chr9:16570814-16570815	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs145225192	chr9:16570833-16570834	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561980769	chr9:16570841-16570842	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575802418	chr9:16570869-16570870	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs35917665	chr9:16570917-16570918	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545944711	chr9:16570918-16570919	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558074676	chr9:16571017-16571018	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573188345	chr9:16571018-16571019	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75874828	chr9:16571028-16571029	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562092623	chr9:16571106-16571107	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529242657	chr9:16571125-16571126	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375065368	chr9:16571157-16571158	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77584592	chr9:16571187-16571188	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530741034	chr9:16571190-16571191	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs74695120	chr9:16571209-16571210	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76511507	chr9:16571211-16571212	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562795991	chr9:16571216-16571217	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149089239	chr9:16571240-16571241	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552391184	chr9:16571311-16571312	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377028568	chr9:16571360-16571361	Weak transcription Enhancers Flanking Active TSS Active TSS	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:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16552800-16570200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:16552800-16571000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:16552800-16571400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:16553000-16570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:16553000-16575200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:16556400-16570600	Weak transcription	NHLF	lung
7	chr9:16556400-16575600	Weak transcription	HSMM	muscle
8	chr9:16560200-16571200	Weak transcription	Ovary	ovary
9	chr9:16560200-16571400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:16560200-16571600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:16564200-16570600	Weak transcription	Osteobl	bone
12	chr9:16564600-16570600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:16566600-16573000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:16568000-16570400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:16568800-16575200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:16569600-16570400	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:16569600-16572200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:16569600-16572400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:16569600-16572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:16569800-16572000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:16569800-16572400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:16569800-16582400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:16570000-16570400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:16570000-16570400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:16570000-16571200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:16570000-16572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:16570200-16570400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:16570200-16570400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:16570400-16570600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:16570400-16570600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:16570400-16570600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:16570400-16570600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr9:16570400-16570800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:16570400-16570800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:16570400-16570800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:16570400-16570800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:16570400-16571000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:16570400-16571400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:16570400-16572400	Enhancers	Colon Smooth Muscle	Colon
40	chr9:16570600-16571000	Active TSS	Fetal Lung	lung
41	chr9:16570600-16571200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:16570600-16571200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:16570600-16571400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:16570600-16571400	Enhancers	A549	lung
45	chr9:16570600-16571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:16570600-16571800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:16570600-16572200	Enhancers	Primary hematopoietic stem cells	blood
48	chr9:16570600-16572200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr9:16570600-16572600	Enhancers	Osteobl	bone
50	chr9:16570600-16572800	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links