Variant report

Variant	nsv965972
Chromosome Location	chr21:15374407-15389737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:15377720-15377794	LNCaP	prostate:	n/a	n/a
2	CTCF	chr21:15380142-15380259	MCF-7	breast:	n/a	n/a
3	CTCF	chr21:15380165-15380221	MCF-7	breast:	n/a	n/a
4	CTCF	chr21:15380189-15380236	GM10266	blood:	n/a	n/a
5	CTCF	chr21:15383641-15383730	K562	blood:	n/a	n/a
6	CTCF	chr21:15380186-15380229	GM12891	blood:	n/a	n/a
7	CTCF	chr21:15383057-15383153	Kidney_OC	kidney:	n/a	n/a
8	EBF1	chr21:15387324-15387536	GM12878	blood:	n/a	chr21:15387464-15387477 chr21:15387466-15387475
9	MAZ	chr21:15383535-15383637	K562	blood:	n/a	n/a
10	MYC	chr21:15386780-15386889	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr21:15379537-15379614	MCF-7	breast:	n/a	n/a
12	POLR2A	chr21:15388535-15388770	GM12878	blood:	n/a	n/a
13	POLR2A	chr21:15375145-15375155	Gliobla	brain:	n/a	n/a
14	POLR2A	chr21:15379579-15379604	MCF-7	breast:	n/a	n/a
15	ZNF263	chr21:15383159-15384048	K562	blood:	n/a	n/a
16	ZNF263	chr21:15381003-15381228	HEK293-T-REx	kidney:	n/a	chr21:15381163-15381172
17	ZNF263	chr21:15383008-15383763	HEK293-T-REx	kidney:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15383750-15383800	IMR90	lung:	fetal
2	chr21:15386159-15386209	BJ	skin:	n/a
3	chr21:15383654-15383704	GM12891	blood:	n/a
4	chr21:15386159-15386209	IMR90	lung:	fetal
5	chr21:15383750-15383800	Caco-2	colon:	n/a
6	chr21:15383799-15383849	MCF-7	breast:	n/a
7	chr21:15383799-15383849	SK-N-SH	brain:	n/a
8	chr21:15383750-15383800	NB4	blood:	n/a
9	chr21:15384512-15384562	ovcar-3	ovarian:	n/a
10	chr21:15380395-15380445	Jurkat	blood:	n/a
11	chr21:15384512-15384562	AG10803	skin:	n/a
12	chr21:15386159-15386209	GM06990	blood:	n/a
13	chr21:15383654-15383704	IMR90	lung:	fetal
14	chr21:15383799-15383849	HepG2	liver:	n/a
15	chr21:15386159-15386209	AG04449	skin:	fetal
16	chr21:15386159-15386209	HRCEpiC	kidney:	n/a
17	chr21:15383654-15383704	GM12878	blood:	n/a
18	chr21:15384512-15384562	Hela-S3	cervix:	n/a
19	chr21:15383222-15383272	HAEpiC	amniotic membrane:	n/a
20	chr21:15383222-15383272	BE2_C	brain:	n/a
21	chr21:15380395-15380445	HMEC	breast:	n/a
22	chr21:15386159-15386209	NHDF-neo	bronchial:	n/a
23	chr21:15386159-15386209	CMK	blood:	n/a
24	chr21:15383750-15383800	GM12892	blood:	n/a
25	chr21:15383750-15383800	PrEC	prostate:	n/a
26	chr21:15383654-15383704	GM06990	blood:	n/a
27	chr21:15383750-15383800	GM12891	blood:	n/a
28	chr21:15383222-15383272	PFSK-1	brain:	n/a
29	chr21:15383654-15383704	AG04450	lung:	fetal
30	chr21:15383750-15383800	HIPEpiC	eye:	n/a
31	chr21:15383799-15383849	HAEpiC	amniotic membrane:	n/a
32	chr21:15383222-15383272	NT2-D1	testis:	n/a
33	chr21:15384512-15384562	SK-N-SH	brain:	n/a
34	chr21:15386159-15386209	Caco-2	colon:	n/a
35	chr21:15383222-15383272	ProgFib	skin:	n/a
36	chr21:15383799-15383849	LNCaP	prostate:	n/a
37	chr21:15383654-15383704	SK-N-SH	brain:	n/a
38	chr21:15383799-15383849	Caco-2	colon:	n/a
39	chr21:15380395-15380445	CMK	blood:	n/a
40	chr21:15380395-15380445	SK-N-SH	brain:	n/a
41	chr21:15383799-15383849	NH-A	brain:	n/a
42	chr21:15383222-15383272	AG04449	skin:	fetal
43	chr21:15383222-15383272	NHBE	bronchial:	n/a
44	chr21:15383750-15383800	HEK293	kidney:	embryo
45	chr21:15380395-15380445	BE2_C	brain:	n/a
46	chr21:15383799-15383849	HCPEpiC	choroid plexus:	n/a
47	chr21:15383799-15383849	AG09309	skin:	n/a
48	chr21:15386159-15386209	HUVEC	blood vessel:	n/a
49	chr21:15380395-15380445	AG09309	skin:	n/a
50	chr21:15380395-15380445	AG04449	skin:	fetal

No data

Variant related genes	Relation type
PPP6R2P1	TF binding region
PPP6R2P1	CpG island

Extended variants
information (count: 535 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:535 , 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	rs56394314	chr21:15377729-15377730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542093811	chr21:15377739-15377740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11909733	chr21:15377751-15377752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200877524	chr21:15377771-15377772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143145380	chr21:15379404-15379405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569607975	chr21:15379409-15379410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs2525593	chr21:15379410-15379411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186654463	chr21:15379415-15379416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571757360	chr21:15379421-15379422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2525594	chr21:15379422-15379423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533993587	chr21:15379434-15379435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554243604	chr21:15379437-15379438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573922377	chr21:15379444-15379445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536663625	chr21:15379445-15379446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576915236	chr21:15379448-15379449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372584614	chr21:15379522-15379523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555220998	chr21:15379533-15379534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192025097	chr21:15379555-15379556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183503183	chr21:15379575-15379576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557426878	chr21:15379576-15379577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141660396	chr21:15379605-15379606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563899001	chr21:15379616-15379617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577773406	chr21:15379632-15379633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147050569	chr21:15379642-15379643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560210289	chr21:15379643-15379644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200256198	chr21:15379660-15379661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528869073	chr21:15379710-15379711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138318293	chr21:15379724-15379725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188943989	chr21:15379730-15379731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs563170906	chr21:15379744-15379745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs143800322	chr21:15379753-15379754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532082129	chr21:15379759-15379760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147241680	chr21:15379786-15379787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138960193	chr21:15379801-15379802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553898189	chr21:15379815-15379816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191977194	chr21:15379829-15379830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200530598	chr21:15379841-15379842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527906027	chr21:15379873-15379874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547540386	chr21:15379998-15379999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567781236	chr21:15380043-15380044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536247694	chr21:15380054-15380055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556179106	chr21:15380090-15380091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573874584	chr21:15380097-15380098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569725995	chr21:15380112-15380113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542860896	chr21:15380113-15380114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557655064	chr21:15380116-15380117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115764175	chr21:15380141-15380142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143272554	chr21:15380151-15380152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540458889	chr21:15380161-15380162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116192493	chr21:15380178-15380179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Breast cancer	20409316	CNVD
Autism	18414403	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15379400-15380000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:15380000-15381800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:15381800-15382000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:15382000-15382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:15382400-15384600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:15383600-15384200	Enhancers	K562	blood
7	chr21:15384600-15388200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:15385800-15386600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr21:15388200-15388400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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