Variant report

Variant	esv17845
Chromosome Location	chr21:15224006-15274199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:15249426-15249616	K562	blood:	n/a	n/a
2	CHD2	chr21:15227020-15227192	K562	blood:	n/a	n/a
3	CTCF	chr21:15224171-15224211	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr21:15248231-15248291	LNCaP	prostate:	n/a	n/a
5	CTCF	chr21:15232571-15232650	LNCaP	prostate:	n/a	n/a
6	CTCF	chr21:15259092-15259146	GM10266	blood:	n/a	n/a
7	CTCF	chr21:15252310-15252389	Lung_OC	lung:	n/a	n/a
8	CTCF	chr21:15252140-15252204	LNCaP	prostate:	n/a	n/a
9	CTCF	chr21:15263041-15263087	GM13976	blood:	n/a	n/a
10	CTCF	chr21:15272673-15272747	GM13976	blood:	n/a	n/a
11	CTCF	chr21:15234852-15234914	GM10248	blood:	n/a	n/a
12	CTCF	chr21:15233169-15233275	GM20000	blood:	n/a	n/a
13	CTCF	chr21:15233129-15233166	LNCaP	prostate:	n/a	n/a
14	CTCF	chr21:15234831-15234848	GM10248	blood:	n/a	n/a
15	EGR1	chr21:15223967-15224112	K562	blood:	n/a	chr21:15224061-15224068
16	EGR1	chr21:15246326-15246569	K562	blood:	n/a	n/a
17	ELF1	chr21:15226998-15227276	K562	blood:	n/a	n/a
18	EP300	chr21:15237106-15237393	GM12878	blood:	n/a	n/a
19	FOS	chr21:15230093-15230172	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr21:15257841-15258162	HepG2	liver:	n/a	n/a
21	FOSL2	chr21:15272534-15272800	HepG2	liver:	n/a	n/a
22	FOSL2	chr21:15274024-15274251	HepG2	liver:	n/a	n/a
23	FOSL2	chr21:15238360-15238653	HepG2	liver:	n/a	n/a
24	FOXA2	chr21:15249352-15249705	A549	lung:	n/a	n/a
25	FOXA2	chr21:15268895-15269235	A549	lung:	n/a	n/a
26	FOXA2	chr21:15268878-15269207	A549	lung:	n/a	n/a
27	FOXA2	chr21:15249284-15249688	A549	lung:	n/a	n/a
28	GATA2	chr21:15233215-15233432	K562	blood:	n/a	n/a
29	GATA3	chr21:15268962-15269449	MCF-7	breast:	n/a	n/a
30	GATA3	chr21:15268961-15269440	MCF-7	breast:	n/a	n/a
31	GATA3	chr21:15268911-15269311	MCF-7	breast:	n/a	n/a
32	GATA3	chr21:15249339-15249766	MCF-7	breast:	n/a	n/a
33	JUND	chr21:15257901-15258117	HepG2	liver:	n/a	n/a
34	JUND	chr21:15238358-15238523	HepG2	liver:	n/a	n/a
35	MYC	chr21:15249437-15249527	K562	blood:	n/a	n/a
36	MYC	chr21:15249475-15249514	MCF-7	breast:	n/a	n/a
37	NR2F2	chr21:15269011-15269423	MCF-7	breast:	n/a	n/a
38	NR2F2	chr21:15268990-15269266	MCF-7	breast:	n/a	n/a
39	NR3C1	chr21:15249343-15249742	A549	lung:	n/a	n/a
40	PAX5	chr21:15237419-15237600	GM12878	blood:	n/a	n/a
41	PAX5	chr21:15261885-15262334	GM12878	blood:	n/a	n/a
42	PAX5	chr21:15242327-15242627	GM12878	blood:	n/a	n/a
43	PAX5	chr21:15242313-15242596	GM12878	blood:	n/a	n/a
44	PAX5	chr21:15257794-15258201	GM12878	blood:	n/a	n/a
45	PAX5	chr21:15271645-15271971	GM12878	blood:	n/a	n/a
46	PAX5	chr21:15225668-15226035	GM12878	blood:	n/a	n/a
47	PAX5	chr21:15242300-15242654	GM12878	blood:	n/a	n/a
48	PAX5	chr21:15242944-15243483	GM12878	blood:	n/a	n/a
49	PAX5	chr21:15261941-15262154	GM12878	blood:	n/a	n/a
50	POLR2A	chr21:15263372-15263558	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-11	chr21:15268407-15268509	NONHSAT081129
2	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129
3	lnc-POTED-9	chr21:15240747-15241288	NONHSAT081122

No data

Variant related genes	Relation type
CYP4F29P	TF binding region

Extended variants
information (count: 2434 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2434 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147611274	chr21:15224012-15224013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185307635	chr21:15224013-15224014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553242265	chr21:15224014-15224015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2878253	chr21:15224047-15224048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564164006	chr21:15224185-15224186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs148303225	chr21:15224202-15224203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376133484	chr21:15225670-15225671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562100628	chr21:15225671-15225672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370724903	chr21:15225674-15225675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546275350	chr21:15235217-15235218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549296765	chr21:15235233-15235234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531701327	chr21:15235256-15235257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559736927	chr21:15235271-15235272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564359290	chr21:15235273-15235274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111821482	chr21:15235277-15235278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546917891	chr21:15235279-15235280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148655638	chr21:15235281-15235282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188464901	chr21:15235299-15235300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113767341	chr21:15235314-15235315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373914027	chr21:15235336-15235337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142347090	chr21:15235347-15235348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs3115488	chr21:15235349-15235350	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs71321913	chr21:15235355-15235356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370713857	chr21:15235358-15235359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs71328402	chr21:15235371-15235372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531073904	chr21:15235374-15235375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73336579	chr21:15235376-15235377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192181908	chr21:15235392-15235393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs71321914	chr21:15235401-15235402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184911307	chr21:15235406-15235407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543257466	chr21:15235410-15235411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs71327272	chr21:15235417-15235418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189586860	chr21:15235425-15235426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191373071	chr21:15235429-15235430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373264065	chr21:15235431-15235432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71327273	chr21:15235437-15235438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539559831	chr21:15235442-15235443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71321915	chr21:15235464-15235465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545346664	chr21:15235480-15235481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs71330003	chr21:15235483-15235484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565125251	chr21:15235488-15235489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs151286199	chr21:15235495-15235496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540137158	chr21:15235501-15235502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560052352	chr21:15235508-15235509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs71327274	chr21:15235509-15235510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71327275	chr21:15235513-15235514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529022712	chr21:15235521-15235522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548768295	chr21:15235522-15235523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111981303	chr21:15235536-15235537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs71327276	chr21:15235546-15235547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15235200-15235800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:15244800-15245200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
3	chr21:15245200-15246200	Weak transcription	Dnd41	blood
4	chr21:15246200-15247600	Enhancers	Dnd41	blood
5	chr21:15247600-15256200	Weak transcription	Dnd41	blood
6	chr21:15249400-15250200	Enhancers	K562	blood
7	chr21:15250200-15250600	Weak transcription	K562	blood
8	chr21:15250600-15250800	Enhancers	K562	blood
9	chr21:15250800-15252400	Weak transcription	K562	blood
10	chr21:15252400-15253000	Enhancers	K562	blood
11	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
12	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
13	chr21:15256200-15256600	Enhancers	Dnd41	blood
14	chr21:15256600-15265600	Weak transcription	Dnd41	blood
15	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
16	chr21:15265600-15267000	Enhancers	Dnd41	blood
17	chr21:15269000-15269400	Enhancers	K562	blood
18	chr21:15269200-15269400	Enhancers	Lung	lung
19	chr21:15269200-15269400	Enhancers	A549	lung
20	chr21:15270000-15270400	Active TSS	Fetal Heart	heart

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