Variant report

Variant	nsv966037
Chromosome Location	chr21:16971736-16987255
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	chr21:16976683-16977050	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr21:16976599-16977183	MCF-7	breast:	n/a	n/a
3	CEBPB	chr21:16976775-16976996	A549	lung:	n/a	n/a
4	CEBPB	chr21:16976466-16977222	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr21:16976806-16977041	IMR90	lung:	n/a	n/a
6	CEBPB	chr21:16976606-16977176	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr21:16976661-16977123	MCF-7	breast:	n/a	n/a
8	CEBPB	chr21:16976708-16977137	ECC-1	luminal epithelium:	n/a	n/a
9	CHD2	chr21:16976370-16977165	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr21:16978680-16978830	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr21:16972327-16972361	Kidney_OC	kidney:	n/a	n/a
12	E2F4	chr21:16976866-16977218	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr21:16976575-16977092	ECC-1	luminal epithelium:	n/a	chr21:16976881-16976895 chr21:16976816-16976825
14	EP300	chr21:16976686-16977210	Hela-S3	cervix:	n/a	chr21:16976881-16976895 chr21:16976816-16976825
15	EP300	chr21:16976451-16977185	ECC-1	luminal epithelium:	n/a	chr21:16976881-16976895 chr21:16976816-16976825
16	FOS	chr21:16976770-16977144	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr21:16976786-16977106	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr21:16976787-16977097	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr21:16976756-16977097	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr21:16974462-16974860	HepG2	liver:	n/a	n/a
21	FOXM1	chr21:16976503-16977253	ECC-1	luminal epithelium:	n/a	n/a
22	GATA2	chr21:16973889-16974243	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr21:16976629-16977270	MCF-7	breast:	n/a	n/a
24	GATA3	chr21:16979293-16979581	SH-SY5Y	brain:	n/a	n/a
25	HNF4A	chr21:16979594-16979821	HepG2	liver:	n/a	n/a
26	JUN	chr21:16979987-16980187	HepG2	liver:	n/a	chr21:16980053-16980066
27	JUND	chr21:16976554-16977156	Hela-S3	cervix:	n/a	n/a
28	JUND	chr21:16976810-16977026	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAFK	chr21:16976452-16977113	Hela-S3	cervix:	n/a	chr21:16976480-16976491 chr21:16976479-16976490 chr21:16976480-16976491
30	MAX	chr21:16976652-16977234	ECC-1	luminal epithelium:	n/a	chr21:16976883-16976892
31	MAX	chr21:16976688-16977161	Hela-S3	cervix:	n/a	chr21:16976883-16976892
32	MAX	chr21:16976747-16977092	ECC-1	luminal epithelium:	n/a	chr21:16976883-16976892
33	MYC	chr21:16976765-16977071	MCF10A-Er-Src	breast:	n/a	chr21:16976883-16976892
34	MYC	chr21:16976693-16977098	MCF10A-Er-Src	breast:	n/a	chr21:16976883-16976892
35	NFIC	chr21:16976549-16977217	ECC-1	luminal epithelium:	n/a	chr21:16976925-16976942 chr21:16976658-16976686 chr21:16976926-16976942
36	NFIC	chr21:16976508-16977255	ECC-1	luminal epithelium:	n/a	chr21:16976925-16976942 chr21:16976658-16976686 chr21:16976926-16976942
37	POLR2A	chr21:16975007-16975195	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr21:16976890-16976978	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr21:16983579-16983718	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr21:16976635-16977250	ECC-1	luminal epithelium:	n/a	chr21:16976845-16976857
41	RAD21	chr21:16976719-16977152	Hela-S3	cervix:	n/a	chr21:16976845-16976857
42	RCOR1	chr21:16976495-16977189	Hela-S3	cervix:	n/a	n/a
43	RFX5	chr21:16976392-16977193	Hela-S3	cervix:	n/a	n/a
44	SIN3A	chr21:16976802-16977027	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr21:16976585-16977285	MCF-7	breast:	n/a	n/a
46	SMC3	chr21:16976641-16977174	Hela-S3	cervix:	n/a	n/a
47	SMC3	chr21:16973867-16973877	Hela-S3	cervix:	n/a	n/a
48	STAT3	chr21:16976816-16977102	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr21:16977823-16977845	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr21:16976795-16977122	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:70260809..70263032-chr21:16985944..16988689,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1326P	TF binding region
ENSG00000085733	chromatin interactions

Extended variants
information (count: 567 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190412863	chr21:16973208-16973209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530042463	chr21:16973229-16973230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567683276	chr21:16973246-16973247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536633405	chr21:16973268-16973269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577640910	chr21:16973288-16973289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571795683	chr21:16973312-16973313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146129564	chr21:16973349-16973350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73892683	chr21:16973470-16973471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529520035	chr21:16973480-16973481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549650319	chr21:16973483-16973484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148368068	chr21:16973574-16973575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59729484	chr21:16973592-16973593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2205578	chr21:16973593-16973594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373032112	chr21:16973605-16973606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571339885	chr21:16973631-16973632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181469471	chr21:16973656-16973657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73343625	chr21:16973661-16973662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs5842541	chr21:16973695-16973696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567556805	chr21:16973823-16973824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536198744	chr21:16973854-16973855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556411154	chr21:16973969-16973970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575864717	chr21:16973990-16973991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570362514	chr21:16974013-16974014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150812103	chr21:16974020-16974021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369999743	chr21:16974026-16974027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187420717	chr21:16974048-16974049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558993507	chr21:16974052-16974053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540629883	chr21:16974072-16974073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560240283	chr21:16974085-16974086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573970040	chr21:16974121-16974122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111496505	chr21:16974143-16974144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534926778	chr21:16974161-16974162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201616752	chr21:16974183-16974184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36082512	chr21:16974184-16974185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566146163	chr21:16974186-16974187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375598604	chr21:16974214-16974215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372122566	chr21:16974226-16974227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374943168	chr21:16974228-16974229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369660319	chr21:16974230-16974231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71322371	chr21:16974232-16974233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533761062	chr21:16974233-16974234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552932009	chr21:16974270-16974271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8128063	chr21:16974272-16974273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563175596	chr21:16974377-16974378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531964676	chr21:16974390-16974391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551972620	chr21:16974436-16974437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564984219	chr21:16974458-16974459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370644259	chr21:16974486-16974487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200873061	chr21:16974497-16974498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547468788	chr21:16974511-16974512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Autism	20841430	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16973200-16976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16975800-16977800	Enhancers	Fetal Heart	heart
3	chr21:16976200-16977000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr21:16976200-16977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:16976200-16977000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr21:16976200-16977000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr21:16976200-16977200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:16976200-16977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr21:16976200-16977400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:16976200-16977400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr21:16976200-16977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:16976200-16977800	Enhancers	Fetal Muscle Leg	muscle
13	chr21:16976200-16977800	Enhancers	Placenta	Placenta
14	chr21:16976200-16977800	Enhancers	HSMM	muscle
15	chr21:16976200-16977800	Enhancers	HSMMtube	muscle
16	chr21:16976200-16978000	Enhancers	Hela-S3	cervix
17	chr21:16976400-16976800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr21:16976400-16977000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:16976400-16977000	Enhancers	HUVEC	blood vessel
20	chr21:16976400-16977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:16976400-16977400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr21:16976400-16977800	Enhancers	HMEC	breast
23	chr21:16976600-16976800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:16976600-16977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr21:16976600-16977400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:16976800-16977400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:16976800-16977600	Enhancers	NHEK	skin
28	chr21:16977000-16977400	Enhancers	A549	lung
29	chr21:16977000-16977800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr21:16977600-16990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:16977800-16979600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr21:16979600-16979800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr21:16985800-16986000	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links