Variant report

Variant	nsv549202
Chromosome Location	chr1:216632948-216650533
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216629602..216631195-chr1:216631680..216634222,2	MCF-7	breast:
2	chr1:216622981..216624507-chr1:216637851..216639964,2	MCF-7	breast:
3	chr1:216636895..216639033-chr1:216642628..216645185,2	K562	blood:
4	chr1:216636895..216639033-chr1:216642628..216645185,2	K562	blood:
5	chr1:216635219..216637699-chr1:216639556..216643694,3	MCF-7	breast:
6	chr1:216636863..216639290-chr1:216639438..216641574,2	MCF-7	breast:
7	chr1:216635219..216637699-chr1:216639556..216643694,3	MCF-7	breast:
8	chr1:216636863..216639290-chr1:216639438..216641574,2	MCF-7	breast:
9	chr1:216636945..216637675-chr3:18331682..18332315,2	MCF-7	breast:

No data

Extended variants
information (count: 398 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10495024	chr1:216632948-216632949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs187494809	chr1:216632960-216632961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74368462	chr1:216632972-216632973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146771523	chr1:216633018-216633019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528118152	chr1:216633026-216633027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549101699	chr1:216633032-216633033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193203313	chr1:216633036-216633037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564790840	chr1:216633037-216633038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530634727	chr1:216633050-216633051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550869135	chr1:216633067-216633068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185192915	chr1:216633079-216633080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530314629	chr1:216633095-216633096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563037284	chr1:216633097-216633098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546917242	chr1:216633127-216633128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566525291	chr1:216633133-216633134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140371431	chr1:216633134-216633135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377473357	chr1:216633167-216633168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558538204	chr1:216633186-216633187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189697399	chr1:216633211-216633212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17042534	chr1:216633246-216633247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556841452	chr1:216633254-216633255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79451932	chr1:216633255-216633256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542918996	chr1:216633256-216633257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181323446	chr1:216633266-216633267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535979574	chr1:216633325-216633326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544978139	chr1:216633344-216633345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564919185	chr1:216633364-216633365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530490631	chr1:216633373-216633374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183518927	chr1:216633374-216633375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17042535	chr1:216633377-216633378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17042536	chr1:216633379-216633380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546880079	chr1:216633386-216633387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4846466	chr1:216633391-216633392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532669897	chr1:216633400-216633401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551354763	chr1:216633415-216633416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557069501	chr1:216633448-216633449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571579943	chr1:216633454-216633455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200141505	chr1:216633473-216633474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386639340	chr1:216633474-216633475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113626952	chr1:216633475-216633476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201441216	chr1:216633476-216633477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567343822	chr1:216633499-216633500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12128345	chr1:216633575-216633576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569282161	chr1:216633597-216633598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539452333	chr1:216633599-216633600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6687745	chr1:216633635-216633636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181826720	chr1:216633637-216633638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145467809	chr1:216633686-216633687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543970266	chr1:216633705-216633706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186420872	chr1:216633756-216633757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216630200-216634600	Weak transcription	NHLF	lung
2	chr1:216630600-216634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:216630600-216636600	Weak transcription	NHEK	skin
4	chr1:216630800-216636000	Weak transcription	NHDF-Ad	bronchial
5	chr1:216631000-216634800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:216631000-216634800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:216631000-216634800	Weak transcription	Osteobl	bone
8	chr1:216631000-216635200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:216631000-216635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:216631000-216635200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:216631000-216636000	Weak transcription	NH-A	brain
12	chr1:216631200-216634600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:216631200-216635200	Weak transcription	Hela-S3	cervix
14	chr1:216632000-216633800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:216632200-216633200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:216632200-216633200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:216632400-216633200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:216632400-216633600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:216632600-216635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:216632600-216636600	Weak transcription	Placenta	Placenta
21	chr1:216632800-216633400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:216632800-216634000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:216633200-216635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:216633200-216636600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:216633200-216637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:216633600-216633800	Enhancers	Pancreas	Pancrea
27	chr1:216633600-216634600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:216633800-216635000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:216633800-216637000	Weak transcription	Pancreas	Pancrea
30	chr1:216634000-216636800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:216634200-216635800	Weak transcription	HMEC	breast
32	chr1:216634600-216637000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:216634600-216638200	Enhancers	NHLF	lung
34	chr1:216634600-216638400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:216634800-216635400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:216634800-216635400	Enhancers	Fetal Intestine Small	intestine
37	chr1:216634800-216635600	Enhancers	Osteobl	bone
38	chr1:216634800-216636200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:216634800-216637000	Enhancers	Fetal Heart	heart
40	chr1:216634800-216637400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:216634800-216638200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:216635000-216635400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:216635000-216635400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:216635000-216636600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:216635200-216635400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:216635200-216635400	Enhancers	Hela-S3	cervix
47	chr1:216635200-216635600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:216635200-216635600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:216635200-216636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:216635200-216636200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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