Variant report

Variant	esv1805317
Chromosome Location	chr21:14446700-14532538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:14527860-14528095	GM12878	blood:	n/a	n/a
2	BATF	chr21:14528975-14529175	GM12878	blood:	n/a	n/a
3	BATF	chr21:14480794-14481018	GM12878	blood:	n/a	chr21:14480939-14480950
4	BATF	chr21:14527906-14528142	GM12878	blood:	n/a	n/a
5	BATF	chr21:14528330-14528648	GM12878	blood:	n/a	n/a
6	BATF	chr21:14480770-14481109	GM12878	blood:	n/a	chr21:14480939-14480950
7	BCL11A	chr21:14527852-14528170	GM12878	blood:	n/a	n/a
8	BCL11A	chr21:14527880-14528210	GM12878	blood:	n/a	n/a
9	BCL11A	chr21:14511452-14511619	GM12878	blood:	n/a	n/a
10	CEBPB	chr21:14478744-14478794	HepG2	liver:	n/a	chr21:14478768-14478779
11	CTCF	chr21:14475128-14475188	Lung_OC	lung:	n/a	n/a
12	CTCF	chr21:14458059-14458092	Medullo	brain:	n/a	n/a
13	CTCF	chr21:14463447-14463540	Lung_OC	lung:	n/a	n/a
14	CTCF	chr21:14455953-14456066	GM13976	blood:	n/a	n/a
15	CTCF	chr21:14485838-14485873	GM20000	blood:	n/a	n/a
16	CTCF	chr21:14479111-14479174	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr21:14472032-14472117	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr21:14491810-14491882	LNCaP	prostate:	n/a	n/a
19	CTCF	chr21:14491766-14491881	Medullo	brain:	n/a	n/a
20	CTCF	chr21:14503918-14504029	LNCaP	prostate:	n/a	n/a
21	CTCF	chr21:14512742-14512838	Medullo	brain:	n/a	n/a
22	CTCF	chr21:14452041-14452080	GM13976	blood:	n/a	n/a
23	CTCF	chr21:14475112-14475160	Medullo	brain:	n/a	n/a
24	CTCF	chr21:14502863-14502886	LNCaP	prostate:	n/a	n/a
25	CTCF	chr21:14485344-14485367	GM10248	blood:	n/a	n/a
26	CTCF	chr21:14460606-14460694	GM13976	blood:	n/a	n/a
27	CTCF	chr21:14502889-14502918	LNCaP	prostate:	n/a	n/a
28	CTCF	chr21:14459041-14459077	Lung_OC	lung:	n/a	n/a
29	CTCF	chr21:14471670-14471707	GM13977	blood:	n/a	n/a
30	CTCF	chr21:14478402-14478500	GM10248	blood:	n/a	n/a
31	CTCF	chr21:14475759-14475809	Medullo	brain:	n/a	n/a
32	CTCF	chr21:14481212-14481276	GM10248	blood:	n/a	n/a
33	CTCF	chr21:14455389-14455424	LNCaP	prostate:	n/a	n/a
34	EBF1	chr21:14527714-14528107	GM12878	blood:	n/a	n/a
35	EBF1	chr21:14528298-14528519	GM12878	blood:	n/a	n/a
36	EBF1	chr21:14473499-14473727	GM12878	blood:	n/a	n/a
37	EBF1	chr21:14473487-14473755	GM12878	blood:	n/a	n/a
38	EP300	chr21:14498342-14498775	GM12878	blood:	n/a	n/a
39	EP300	chr21:14495024-14495330	GM12878	blood:	n/a	n/a
40	EP300	chr21:14528281-14528644	GM12878	blood:	n/a	n/a
41	EP300	chr21:14492340-14492732	GM12878	blood:	n/a	n/a
42	EP300	chr21:14527578-14528157	GM12878	blood:	n/a	n/a
43	EP300	chr21:14476583-14476835	GM12878	blood:	n/a	n/a
44	EP300	chr21:14502881-14503153	GM12878	blood:	n/a	n/a
45	EP300	chr21:14511125-14511708	GM12878	blood:	n/a	n/a
46	EP300	chr21:14476679-14476831	GM12878	blood:	n/a	n/a
47	ESR1	chr21:14515893-14516182	T-47D	breast:	n/a	n/a
48	ESR1	chr21:14515838-14516170	T-47D	breast:	n/a	n/a
49	FOSL2	chr21:14527795-14528215	HepG2	liver:	n/a	n/a
50	FOSL2	chr21:14527609-14528185	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-4	chr21:14490159-14490571	NR_026916
2	lnc-POTED-13	chr21:14492565-14493128	NONHSAT081097

No data

Variant related genes	Relation type
ZNF355P	TF binding region
ENSG00000237202	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577090876	chr21:14490194-14490195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545769286	chr21:14490241-14490242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559127657	chr21:14490254-14490255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528189781	chr21:14490372-14490373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541479882	chr21:14490386-14490387	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs561458226	chr21:14490395-14490396	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs572046012	chr21:14490423-14490424	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs530972508	chr21:14490447-14490448	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs147500365	chr21:14490467-14490468	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs571100349	chr21:14490493-14490494	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs533487679	chr21:14490494-14490495	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs546963004	chr21:14490525-14490526	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs199933318	chr21:14490699-14490700	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs200740846	chr21:14490702-14490703	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs201930719	chr21:14490733-14490734	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs62213093	chr21:14490788-14490789	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs538383374	chr21:14491767-14491768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550751466	chr21:14491776-14491777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570508711	chr21:14491784-14491785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539630863	chr21:14491842-14491843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552960175	chr21:14491879-14491880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549389998	chr21:14492365-14492366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562918523	chr21:14492405-14492406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531742202	chr21:14492408-14492409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551545245	chr21:14492412-14492413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200022930	chr21:14492418-14492419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4618136	chr21:14492425-14492426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77002763	chr21:14492477-14492478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74970892	chr21:14492478-14492479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571731832	chr21:14492524-14492525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539231181	chr21:14492529-14492530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs546799391	chr21:14492598-14492599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565828827	chr21:14492614-14492615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs201704248	chr21:14492644-14492645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs200282025	chr21:14492660-14492661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs201188897	chr21:14492695-14492696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs201905951	chr21:14492725-14492726	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200566878	chr21:14492759-14492760	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs554938181	chr21:14492776-14492777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs553403805	chr21:14492777-14492778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs73891562	chr21:14492784-14492785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs199578541	chr21:14492811-14492812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs574845827	chr21:14492870-14492871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs374202436	chr21:14492923-14492924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200034717	chr21:14492940-14492941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs4079730	chr21:14492998-14492999	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs537856022	chr21:14493029-14493030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200744800	chr21:14493038-14493039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs201547537	chr21:14493044-14493045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs4079729	chr21:14493046-14493047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	18458336	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
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14497200-14497400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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