Variant report

Variant	esv1810368
Chromosome Location	chr21:14436791-14566371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:222)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:222 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:14528975-14529175	GM12878	blood:	n/a	n/a
2	BATF	chr21:14544106-14544347	GM12878	blood:	n/a	chr21:14544231-14544240
3	BATF	chr21:14527860-14528095	GM12878	blood:	n/a	n/a
4	BATF	chr21:14528330-14528648	GM12878	blood:	n/a	n/a
5	BATF	chr21:14480794-14481018	GM12878	blood:	n/a	chr21:14480939-14480950
6	BATF	chr21:14527906-14528142	GM12878	blood:	n/a	n/a
7	BATF	chr21:14480770-14481109	GM12878	blood:	n/a	chr21:14480939-14480950
8	BCL11A	chr21:14527852-14528170	GM12878	blood:	n/a	n/a
9	BCL11A	chr21:14527880-14528210	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:14441151-14441415	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:14511452-14511619	GM12878	blood:	n/a	n/a
12	CEBPB	chr21:14440696-14440835	K562	blood:	n/a	n/a
13	CEBPB	chr21:14478744-14478794	HepG2	liver:	n/a	chr21:14478768-14478779
14	CEBPB	chr21:14440619-14440905	IMR90	lung:	n/a	n/a
15	CTCF	chr21:14475112-14475160	Medullo	brain:	n/a	n/a
16	CTCF	chr21:14475759-14475809	Medullo	brain:	n/a	n/a
17	CTCF	chr21:14536949-14536983	Lung_OC	lung:	n/a	n/a
18	CTCF	chr21:14555607-14555667	Medullo	brain:	n/a	n/a
19	CTCF	chr21:14439561-14439605	Lung_OC	lung:	n/a	n/a
20	CTCF	chr21:14478402-14478500	GM10248	blood:	n/a	n/a
21	CTCF	chr21:14458059-14458092	Medullo	brain:	n/a	n/a
22	CTCF	chr21:14437124-14437172	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr21:14481212-14481276	GM10248	blood:	n/a	n/a
24	CTCF	chr21:14560507-14560642	Medullo	brain:	n/a	n/a
25	CTCF	chr21:14460606-14460694	GM13976	blood:	n/a	n/a
26	CTCF	chr21:14459041-14459077	Lung_OC	lung:	n/a	n/a
27	CTCF	chr21:14485344-14485367	GM10248	blood:	n/a	n/a
28	CTCF	chr21:14491766-14491881	Medullo	brain:	n/a	n/a
29	CTCF	chr21:14475128-14475188	Lung_OC	lung:	n/a	n/a
30	CTCF	chr21:14485838-14485873	GM20000	blood:	n/a	n/a
31	CTCF	chr21:14452041-14452080	GM13976	blood:	n/a	n/a
32	CTCF	chr21:14503918-14504029	LNCaP	prostate:	n/a	n/a
33	CTCF	chr21:14512742-14512838	Medullo	brain:	n/a	n/a
34	CTCF	chr21:14472032-14472117	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr21:14463447-14463540	Lung_OC	lung:	n/a	n/a
36	CTCF	chr21:14502889-14502918	LNCaP	prostate:	n/a	n/a
37	CTCF	chr21:14441633-14441673	Gliobla	brain:	n/a	n/a
38	CTCF	chr21:14479111-14479174	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr21:14560440-14560458	Medullo	brain:	n/a	n/a
40	CTCF	chr21:14502863-14502886	LNCaP	prostate:	n/a	n/a
41	CTCF	chr21:14491810-14491882	LNCaP	prostate:	n/a	n/a
42	CTCF	chr21:14455953-14456066	GM13976	blood:	n/a	n/a
43	CTCF	chr21:14555478-14555529	Medullo	brain:	n/a	n/a
44	CTCF	chr21:14471670-14471707	GM13977	blood:	n/a	n/a
45	CTCF	chr21:14455389-14455424	LNCaP	prostate:	n/a	n/a
46	EBF1	chr21:14473499-14473727	GM12878	blood:	n/a	n/a
47	EBF1	chr21:14473487-14473755	GM12878	blood:	n/a	n/a
48	EBF1	chr21:14527714-14528107	GM12878	blood:	n/a	n/a
49	EBF1	chr21:14528298-14528519	GM12878	blood:	n/a	n/a
50	EP300	chr21:14528281-14528644	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-4	chr21:14439173-14439296	XLOC_013857
2	lnc-POTED-4	chr21:14437894-14438020	XLOC_013857
3	lnc-POTED-4	chr21:14437496-14438020	NR_026916
4	lnc-POTED-4	chr21:14439853-14440186	NONHSAT081096
5	lnc-POTED-4	chr21:14439173-14439369	NR_026916
6	lnc-POTED-4	chr21:14441496-14441613	NR_026916
7	lnc-POTED-4	chr21:14490159-14490571	NR_026916
8	lnc-POTED-4	chr21:14435367-14437487	NONHSAT081096
9	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: 206 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71354213	chr21:14436797-14436798	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs567269391	chr21:14436814-14436815	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185789359	chr21:14436835-14436836	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549326551	chr21:14436841-14436842	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569556337	chr21:14436854-14436855	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs538700408	chr21:14436865-14436866	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs71354212	chr21:14436907-14436908	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs71354211	chr21:14436910-14436911	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs560940954	chr21:14436917-14436918	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs3869834	chr21:14436963-14436964	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs71354210	chr21:14437002-14437003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs374167454	chr21:14437003-14437004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs558387561	chr21:14437016-14437017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs71354209	chr21:14437019-14437020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs377645643	chr21:14437059-14437060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs371359310	chr21:14437105-14437106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs71366791	chr21:14437123-14437124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs376059874	chr21:14437124-14437125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs534932932	chr21:14437133-14437134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs191735334	chr21:14437134-14437135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs369578076	chr21:14437136-14437137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs555295952	chr21:14437137-14437138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs575246971	chr21:14437148-14437149	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544135254	chr21:14437173-14437174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs557345050	chr21:14437193-14437194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs577188360	chr21:14437211-14437212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113428508	chr21:14437212-14437213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546244620	chr21:14437245-14437246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs545841836	chr21:14437292-14437293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs200838432	chr21:14437336-14437337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572203066	chr21:14437349-14437350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs540868757	chr21:14437371-14437372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs560758640	chr21:14437378-14437379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs4818706	chr21:14437420-14437421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs2821672	chr21:14437426-14437427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs11088941	chr21:14437435-14437436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs2821673	chr21:14437446-14437447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs529893266	chr21:14437451-14437452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs139534182	chr21:14437521-14437522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs4818707	chr21:14437531-14437532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs145444518	chr21:14437575-14437576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs532047891	chr21:14437583-14437584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs73338933	chr21:14437585-14437586	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs144128537	chr21:14437598-14437599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs552225360	chr21:14437618-14437619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs565681921	chr21:14437620-14437621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs200006842	chr21:14437626-14437627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs535219341	chr21:14437635-14437636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs10439633	chr21:14437640-14437641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs190642385	chr21:14437641-14437642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14436200-14437000	Enhancers	Dnd41	blood
2	chr21:14497200-14497400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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