Variant report

Variant	nsv1064664
Chromosome Location	chr21:17336936-17405756
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:17374904..17375409-chr21:17702413..17703119,2	MCF-7	breast:
2	chr21:17379808..17382152-chr21:17382746..17385605,3	MCF-7	breast:
3	chr21:17379808..17382152-chr21:17382746..17385605,3	MCF-7	breast:
4	chr21:17372029..17374232-chr21:17375121..17376918,2	K562	blood:
5	chr21:17376058..17376905-chr8:24546983..24547789,2	MCF-7	breast:
6	chr21:17372029..17374232-chr21:17375121..17376918,2	K562	blood:
7	chr21:17364798..17365299-chr9:107784199..107784699,2	Hela-S3	cervix:
8	chr21:17359620..17362061-chr21:17365249..17368112,2	MCF-7	breast:
9	chr21:17359620..17362061-chr21:17365249..17368112,2	MCF-7	breast:
10	chr21:17374756..17375589-chr21:17702524..17703193,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215386	chromatin interactions

Extended variants
information (count: 1775 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571226382	chr21:17336959-17336960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561775778	chr21:17337011-17337012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139541649	chr21:17337126-17337127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149819382	chr21:17337141-17337142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553581021	chr21:17337146-17337147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78464134	chr21:17337204-17337205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535983580	chr21:17337212-17337213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555574628	chr21:17337307-17337308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78948937	chr21:17337320-17337321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559233336	chr21:17337341-17337342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs433085	chr21:17337375-17337376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34060369	chr21:17337385-17337386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs442208	chr21:17337406-17337407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139741851	chr21:17337431-17337432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540906066	chr21:17337443-17337444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72629100	chr21:17337509-17337510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2404031	chr21:17337545-17337546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76876140	chr21:17337558-17337559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146533983	chr21:17337581-17337582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543160874	chr21:17337593-17337594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185559402	chr21:17337749-17337750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149141383	chr21:17337755-17337756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543377754	chr21:17337801-17337802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550986274	chr21:17337822-17337823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190662497	chr21:17337828-17337829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527616574	chr21:17337856-17337857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115895248	chr21:17337858-17337859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73348888	chr21:17337899-17337900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143257952	chr21:17337900-17337901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549904102	chr21:17338022-17338023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188069185	chr21:17338068-17338069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192248927	chr21:17338171-17338172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs882720	chr21:17338181-17338182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs62217564	chr21:17338189-17338190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs446216	chr21:17338202-17338203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs80058349	chr21:17338210-17338211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561976269	chr21:17338212-17338213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574234986	chr21:17338213-17338214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542869273	chr21:17338214-17338215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187779894	chr21:17338262-17338263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530835159	chr21:17338301-17338302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80352069	chr21:17338316-17338317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192211625	chr21:17338323-17338324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184023718	chr21:17338332-17338333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80120221	chr21:17338353-17338354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561032522	chr21:17338365-17338366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186838401	chr21:17338388-17338389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371888104	chr21:17338438-17338439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549731513	chr21:17338514-17338515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547590978	chr21:17338549-17338550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17327000-17339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:17336000-17337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:17336000-17338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:17336400-17337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:17336400-17337400	Enhancers	HMEC	breast
6	chr21:17336600-17337400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:17336600-17337400	Enhancers	NHEK	skin
8	chr21:17336600-17337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:17336800-17337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:17337400-17339800	Weak transcription	HMEC	breast
11	chr21:17337400-17340000	Weak transcription	NHEK	skin
12	chr21:17337600-17340400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:17338000-17340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:17338200-17339000	Enhancers	Fetal Lung	lung
15	chr21:17338800-17339000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr21:17338800-17339000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:17339000-17339800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr21:17339200-17340200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:17339800-17340600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:17339800-17340600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:17339800-17340600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:17339800-17340600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr21:17339800-17340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr21:17339800-17340800	Enhancers	HMEC	breast
25	chr21:17339800-17340800	Enhancers	HSMM	muscle
26	chr21:17339800-17340800	Enhancers	HSMMtube	muscle
27	chr21:17340000-17340400	Enhancers	NHEK	skin
28	chr21:17340000-17340600	Enhancers	NH-A	brain
29	chr21:17340000-17340800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr21:17340200-17340600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr21:17340200-17340600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:17340200-17340600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:17340400-17340600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr21:17340400-17340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:17340600-17341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:17341400-17341600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:17341400-17341800	Enhancers	Colon Smooth Muscle	Colon
38	chr21:17341600-17344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:17348000-17350600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:17349600-17351800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:17350000-17351000	Enhancers	Hela-S3	cervix
42	chr21:17350200-17351400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr21:17350200-17352000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:17350400-17350800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr21:17350400-17350800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr21:17350400-17351400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:17350400-17351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:17350400-17351400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:17350400-17351400	Enhancers	Fetal Kidney	kidney
50	chr21:17350400-17351400	Enhancers	Osteobl	bone

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