Variant report

Variant	nsv459101
Chromosome Location	chr21:17794432-17819036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:17794875-17795400	Hela-S3	cervix:	n/a	chr21:17794990-17795001 chr21:17794990-17795003
2	CEBPB	chr21:17818801-17819060	HepG2	liver:	n/a	chr21:17818924-17818935
3	CEBPB	chr21:17796273-17796481	Hela-S3	cervix:	n/a	chr21:17796368-17796379 chr21:17796366-17796379
4	CEBPB	chr21:17797768-17798408	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr21:17800537-17800627	Kidney_OC	kidney:	n/a	n/a
6	E2F4	chr21:17799768-17799938	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr21:17797663-17798260	Hela-S3	cervix:	n/a	n/a
8	EP300	chr21:17798156-17798429	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr21:17797155-17799919	SK-N-SH	brain:	n/a	chr21:17797369-17797378
10	EP300	chr21:17799814-17800446	ECC-1	luminal epithelium:	n/a	chr21:17799971-17799985 chr21:17799978-17799992 chr21:17799968-17799982 chr21:17799970-17799984 chr21:17799969-17799983 chr21:17799972-17799986
11	ESR1	chr21:17803443-17803867	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr21:17800643-17801437	ECC-1	luminal epithelium:	n/a	chr21:17800982-17800999 chr21:17800983-17801000
13	ESR1	chr21:17800843-17801192	ECC-1	luminal epithelium:	n/a	chr21:17800982-17800999 chr21:17800983-17801000
14	ESR1	chr21:17803396-17803834	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr21:17803565-17803786	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr21:17800724-17801392	ECC-1	luminal epithelium:	n/a	chr21:17800982-17800999 chr21:17800983-17801000
17	ESR1	chr21:17803418-17803879	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr21:17800738-17801435	ECC-1	luminal epithelium:	n/a	chr21:17800982-17800999 chr21:17800983-17801000
19	ESR1	chr21:17800801-17801392	ECC-1	luminal epithelium:	n/a	chr21:17800982-17800999 chr21:17800983-17801000
20	FOS	chr21:17798152-17798305	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr21:17818346-17818635	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr21:17818869-17819045	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr21:17798165-17798330	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr21:17818346-17818656	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr21:17818869-17819102	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr21:17796729-17797285	HUVEC	blood vessel:	n/a	chr21:17797059-17797069
27	FOS	chr21:17818346-17818632	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr21:17797602-17798217	HUVEC	blood vessel:	n/a	n/a
29	FOXA1	chr21:17818604-17819047	T-47D	breast:	n/a	chr21:17818910-17818925
30	FOXA1	chr21:17818816-17819019	T-47D	breast:	n/a	chr21:17818910-17818925
31	FOXA2	chr21:17818787-17818978	HepG2	liver:	n/a	n/a
32	FOXM1	chr21:17799765-17800446	ECC-1	luminal epithelium:	n/a	n/a
33	GATA2	chr21:17796879-17798283	HUVEC	blood vessel:	n/a	chr21:17797551-17797561 chr21:17797058-17797065 chr21:17797821-17797831
34	GATA3	chr21:17799448-17799806	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr21:17795531-17796171	MCF-7	breast:	n/a	n/a
36	GATA3	chr21:17818798-17819069	T-47D	breast:	n/a	n/a
37	GATA3	chr21:17795582-17795911	MCF-7	breast:	n/a	n/a
38	JUN	chr21:17797359-17798302	HUVEC	blood vessel:	n/a	n/a
39	JUN	chr21:17818913-17818993	HepG2	liver:	n/a	chr21:17818921-17818934
40	MAFK	chr21:17796809-17797249	Hela-S3	cervix:	n/a	chr21:17797054-17797074 chr21:17797056-17797072 chr21:17797040-17797054 chr21:17797060-17797070 chr21:17797057-17797071
41	MAFK	chr21:17796948-17797094	HepG2	liver:	n/a	chr21:17797054-17797074 chr21:17797056-17797072 chr21:17797040-17797054 chr21:17797060-17797070 chr21:17797057-17797071
42	MAZ	chr21:17796787-17796918	HepG2	liver:	n/a	n/a
43	NFIC	chr21:17795038-17795491	ECC-1	luminal epithelium:	n/a	n/a
44	NFIC	chr21:17794868-17795608	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr21:17796661-17797671	ECC-1	luminal epithelium:	n/a	chr21:17797301-17797317
46	NFYB	chr21:17803824-17804003	GM12878	blood:	n/a	n/a
47	NRF1	chr21:17818039-17818065	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr21:17796463-17797063	U87	brain:	n/a	n/a
49	POLR2A	chr21:17806256-17806313	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr21:17796607-17797151	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:17795082..17798298-chr21:17801061..17804757,3	MCF-7	breast:
2	chr21:17812930..17814449-chr21:17824658..17826257,2	MCF-7	breast:
3	chr21:17793428..17795619-chr21:17796309..17799030,2	MCF-7	breast:
4	chr21:17802778..17805125-chr21:17808909..17810799,2	MCF-7	breast:
5	chr21:17802778..17805125-chr21:17808909..17810799,2	MCF-7	breast:
6	chr21:17793428..17795619-chr21:17796309..17799030,2	MCF-7	breast:
7	chr21:17789969..17792696-chr21:17799605..17801790,2	MCF-7	breast:
8	chr21:17795082..17798298-chr21:17801061..17804757,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270139	TF binding region
ENSG00000270139	chromatin interactions
ENSG00000215386	chromatin interactions

Extended variants
information (count: 1030 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1030 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13051437	chr21:17794432-17794433	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184461061	chr21:17794433-17794434	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs115885018	chr21:17794445-17794446	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532405783	chr21:17794448-17794449	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187435660	chr21:17794483-17794484	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191979188	chr21:17794498-17794499	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370872054	chr21:17794532-17794533	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552679711	chr21:17794560-17794561	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184770224	chr21:17794584-17794585	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9637006	chr21:17794586-17794587	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574551835	chr21:17794603-17794604	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533935525	chr21:17794611-17794612	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143320113	chr21:17794643-17794644	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541507493	chr21:17794657-17794658	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75686984	chr21:17794666-17794667	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141561285	chr21:17794709-17794710	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368149246	chr21:17794739-17794740	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190238544	chr21:17794784-17794785	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555295480	chr21:17794801-17794802	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181021190	chr21:17794809-17794810	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558979888	chr21:17794810-17794811	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9983234	chr21:17794823-17794824	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541042167	chr21:17794914-17794915	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555064658	chr21:17794938-17794939	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574949268	chr21:17794970-17794971	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575458538	chr21:17795006-17795007	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs9305765	chr21:17795008-17795009	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184348466	chr21:17795031-17795032	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577108063	chr21:17795143-17795144	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs138581693	chr21:17795208-17795209	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs75728318	chr21:17795287-17795288	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190016428	chr21:17795337-17795338	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547843002	chr21:17795348-17795349	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546211916	chr21:17795355-17795356	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs116264837	chr21:17795383-17795384	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550260142	chr21:17795453-17795454	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569958494	chr21:17795466-17795467	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538844789	chr21:17795472-17795473	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs564292647	chr21:17795564-17795565	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143813807	chr21:17795584-17795585	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs118146933	chr21:17795587-17795588	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs115527447	chr21:17795592-17795593	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11284000	chr21:17795612-17795613	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559924335	chr21:17795622-17795623	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12482089	chr21:17795634-17795635	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149937708	chr21:17795654-17795655	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs561778485	chr21:17795661-17795662	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574987542	chr21:17795665-17795666	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548296939	chr21:17795701-17795702	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181313556	chr21:17795726-17795727	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17790400-17797000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr21:17791200-17795200	Active TSS	A549	lung
3	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
4	chr21:17791400-17795000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17791400-17795200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr21:17791400-17795400	Active TSS	Brain Hippocampus Middle	brain
7	chr21:17791400-17795600	Active TSS	Brain Germinal Matrix	brain
8	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
10	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr21:17791600-17795000	Active TSS	HUVEC	blood vessel
13	chr21:17791600-17795000	Active TSS	NH-A	brain
14	chr21:17791600-17795200	Active TSS	HMEC	breast
15	chr21:17791600-17795400	Active TSS	Fetal Muscle Leg	muscle
16	chr21:17791600-17796200	Active TSS	Liver	Liver
17	chr21:17791600-17796400	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr21:17791600-17796600	Active TSS	Fetal Brain Male	brain
19	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
20	chr21:17791600-17797200	Active TSS	HSMMtube	muscle
21	chr21:17791800-17796400	Active TSS	Adipose Nuclei	Adipose
22	chr21:17791800-17797400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:17792200-17795400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:17793000-17794800	Weak transcription	HSMM	muscle
25	chr21:17793000-17795000	Weak transcription	Stomach Mucosa	stomach
26	chr21:17793000-17796000	Weak transcription	Psoas Muscle	Psoas
27	chr21:17793000-17796200	Weak transcription	Fetal Lung	lung
28	chr21:17793000-17796400	Weak transcription	Brain Substantia Nigra	brain
29	chr21:17793000-17796400	Weak transcription	Ovary	ovary
30	chr21:17793000-17796400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr21:17793000-17796400	Weak transcription	Right Ventricle	heart
32	chr21:17793000-17796400	Weak transcription	NHLF	lung
33	chr21:17793200-17794800	Weak transcription	Hela-S3	cervix
34	chr21:17793200-17796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr21:17793200-17796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr21:17793200-17796400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:17793200-17796400	Weak transcription	NHEK	skin
38	chr21:17793400-17795200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr21:17793400-17796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:17793600-17795000	Weak transcription	Fetal Kidney	kidney
41	chr21:17793600-17796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr21:17793800-17795000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr21:17793800-17796400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr21:17794000-17795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:17794000-17796400	Weak transcription	Colon Smooth Muscle	Colon
46	chr21:17794000-17796600	Weak transcription	Fetal Heart	heart
47	chr21:17794400-17794600	Active TSS	Brain Anterior Caudate	brain
48	chr21:17794400-17795000	Active TSS	Brain Angular Gyrus	brain
49	chr21:17794400-17796200	Enhancers	Osteobl	bone
50	chr21:17794400-17796800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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