Variant report

Variant	nsv541981
Chromosome Location	chr14:21676221-21727801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2460)
CpG islands
(count:366)
Chromatin interactive
region (count:89)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

(count:2460 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:21711256-21711587	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:21697647-21697673	K562	blood:	n/a	n/a
3	ARID3A	chr14:21712624-21712985	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:21717162-21717278	K562	blood:	n/a	n/a
5	ARID3A	chr14:21709409-21709593	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:21711963-21711985	HepG2	liver:	n/a	n/a
7	ATF2	chr14:21727624-21728013	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr14:21726892-21727596	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr14:21727073-21727426	K562	blood:	n/a	n/a
10	BCLAF1	chr14:21713989-21714387	GM12878	blood:	n/a	n/a
11	BCLAF1	chr14:21726752-21727540	GM12878	blood:	n/a	n/a
12	BCLAF1	chr14:21724730-21725441	GM12878	blood:	n/a	n/a
13	BCLAF1	chr14:21720323-21720739	GM12878	blood:	n/a	n/a
14	BCLAF1	chr14:21712549-21713102	GM12878	blood:	n/a	n/a
15	BCLAF1	chr14:21705331-21705994	GM12878	blood:	n/a	n/a
16	BCLAF1	chr14:21726995-21727466	K562	blood:	n/a	n/a
17	BCLAF1	chr14:21726818-21727567	K562	blood:	n/a	n/a
18	BCLAF1	chr14:21709359-21711746	GM12878	blood:	n/a	n/a
19	BCLAF1	chr14:21710768-21711305	GM12878	blood:	n/a	n/a
20	BCLAF1	chr14:21706763-21707518	GM12878	blood:	n/a	n/a
21	BCLAF1	chr14:21712564-21713058	GM12878	blood:	n/a	n/a
22	BCLAF1	chr14:21723447-21724382	GM12878	blood:	n/a	n/a
23	BRCA1	chr14:21699415-21699501	GM12878	blood:	n/a	n/a
24	BRCA1	chr14:21709394-21709761	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr14:21727172-21727553	H1-hESC	embryonic stem cell:	n/a	n/a
26	CCNT2	chr14:21676495-21676698	K562	blood:	n/a	n/a
27	CCNT2	chr14:21727232-21727439	K562	blood:	n/a	n/a
28	CEBPB	chr14:21725655-21725941	K562	blood:	n/a	n/a
29	CEBPB	chr14:21686274-21686500	HepG2	liver:	n/a	n/a
30	CEBPB	chr14:21686243-21686651	Hela-S3	cervix:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
31	CEBPB	chr14:21714647-21714798	IMR90	lung:	n/a	chr14:21714676-21714687
32	CEBPB	chr14:21725231-21726179	IMR90	lung:	n/a	chr14:21725397-21725408
33	CEBPB	chr14:21702038-21702213	HepG2	liver:	n/a	n/a
34	CEBPB	chr14:21712759-21712964	HepG2	liver:	n/a	chr14:21712828-21712839
35	CEBPB	chr14:21699413-21699749	HepG2	liver:	n/a	chr14:21699571-21699582
36	CEBPB	chr14:21714572-21714765	A549	lung:	n/a	chr14:21714676-21714687
37	CEBPB	chr14:21714668-21714754	HepG2	liver:	n/a	chr14:21714676-21714687
38	CEBPB	chr14:21712656-21713058	HepG2	liver:	n/a	chr14:21712670-21712681 chr14:21712828-21712839
39	CEBPB	chr14:21686238-21687069	IMR90	lung:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
40	CEBPB	chr14:21717825-21718039	K562	blood:	n/a	n/a
41	CEBPB	chr14:21717767-21718084	A549	lung:	n/a	n/a
42	CEBPB	chr14:21712641-21713022	K562	blood:	n/a	chr14:21712670-21712681 chr14:21712828-21712839
43	CEBPB	chr14:21699396-21699731	Hela-S3	cervix:	n/a	chr14:21699571-21699582
44	CEBPB	chr14:21712550-21713109	A549	lung:	n/a	chr14:21712670-21712681 chr14:21712828-21712839
45	CEBPB	chr14:21712696-21713103	HepG2	liver:	n/a	chr14:21712828-21712839
46	CEBPB	chr14:21725285-21726186	K562	blood:	n/a	chr14:21725397-21725408
47	CEBPB	chr14:21712622-21713032	K562	blood:	n/a	chr14:21712670-21712681 chr14:21712828-21712839
48	CEBPB	chr14:21712657-21713039	IMR90	lung:	n/a	chr14:21712670-21712681 chr14:21712828-21712839
49	CEBPB	chr14:21699392-21699707	A549	lung:	n/a	chr14:21699571-21699582
50	CEBPB	chr14:21725262-21725951	A549	lung:	n/a	chr14:21725397-21725408

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21725703-21725753	Hela-S3	cervix:	n/a
2	chr14:21679191-21679241	K562	blood:	n/a
3	chr14:21704611-21704661	U87	brain:	n/a
4	chr14:21689119-21689169	LNCaP	prostate:	n/a
5	chr14:21704611-21704661	ECC-1	luminal epithelium:	n/a
6	chr14:21727471-21727521	HRPEpiC	eye:	n/a
7	chr14:21725703-21725753	PFSK-1	brain:	n/a
8	chr14:21689119-21689169	HCPEpiC	choroid plexus:	n/a
9	chr14:21676297-21676347	PrEC	prostate:	n/a
10	chr14:21676297-21676347	U87	brain:	n/a
11	chr14:21676297-21676347	HEK293	kidney:	embryo
12	chr14:21679191-21679241	SK-N-SH_RA	brain:	n/a
13	chr14:21727471-21727521	HCT-116	colon:	n/a
14	chr14:21727471-21727521	HAEpiC	amniotic membrane:	n/a
15	chr14:21725703-21725753	HCF	heart:	n/a
16	chr14:21676297-21676347	GM12891	blood:	n/a
17	chr14:21676297-21676347	Caco-2	colon:	n/a
18	chr14:21704611-21704661	NHBE	bronchial:	n/a
19	chr14:21679191-21679241	NHDF-neo	bronchial:	n/a
20	chr14:21679191-21679241	H1-hESC	embryonic stem cell:	embryo
21	chr14:21689119-21689169	MCF10A-Er-Src	breast:	n/a
22	chr14:21727471-21727521	GM12891	blood:	n/a
23	chr14:21679191-21679241	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:21689119-21689169	BE2_C	brain:	n/a
25	chr14:21725703-21725753	PANC-1	pancreas:	n/a
26	chr14:21676297-21676347	ovcar-3	ovarian:	n/a
27	chr14:21727471-21727521	NHBE	bronchial:	n/a
28	chr14:21676297-21676347	NH-A	brain:	n/a
29	chr14:21727471-21727521	PrEC	prostate:	n/a
30	chr14:21727471-21727521	HIPEpiC	eye:	n/a
31	chr14:21704611-21704661	RPTEC	kidney:	n/a
32	chr14:21689119-21689169	PrEC	prostate:	n/a
33	chr14:21689119-21689169	Hela-S3	cervix:	n/a
34	chr14:21704611-21704661	SAEC	small airway:	n/a
35	chr14:21676297-21676347	NHDF-neo	bronchial:	n/a
36	chr14:21725703-21725753	GM12891	blood:	n/a
37	chr14:21704611-21704661	HNPCEpiC	eye:	n/a
38	chr14:21727471-21727521	Caco-2	colon:	n/a
39	chr14:21704611-21704661	IMR90	lung:	fetal
40	chr14:21676297-21676347	RPTEC	kidney:	n/a
41	chr14:21679191-21679241	GM12892	blood:	n/a
42	chr14:21725703-21725753	HUVEC	blood vessel:	n/a
43	chr14:21676297-21676347	PANC-1	pancreas:	n/a
44	chr14:21725703-21725753	BE2_C	brain:	n/a
45	chr14:21676297-21676347	HUVEC	blood vessel:	n/a
46	chr14:21725703-21725753	ECC-1	luminal epithelium:	n/a
47	chr14:21676297-21676347	HMEC	breast:	n/a
48	chr14:21679191-21679241	HMEC	breast:	n/a
49	chr14:21689119-21689169	HUVEC	blood vessel:	n/a
50	chr14:21725703-21725753	H1-hESC	embryonic stem cell:	embryo

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:21688131..21691193-chr14:21736092..21738684,3	MCF-7	breast:
2	chr14:21698449..21701323-chr14:21702052..21705538,3	MCF-7	breast:
3	chr14:21678068..21679716-chr14:21682875..21685617,2	K562	blood:
4	chr14:21676404..21679681-chr14:21680227..21682594,3	K562	blood:
5	chr14:21702039..21704805-chr14:21710008..21711834,2	MCF-7	breast:
6	chr14:21720789..21724175-chr14:21848561..21851525,3	K562	blood:
7	chr14:21713934..21716894-chr14:21726084..21727992,2	MCF-7	breast:
8	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
9	chr14:21700378..21702346-chr14:21819126..21821504,2	MCF-7	breast:
10	chr14:21679501..21682581-chr14:21683492..21686432,4	K562	blood:
11	chr14:21707431..21709141-chr14:21735831..21737898,2	K562	blood:
12	chr14:21682920..21686919-chr14:21693629..21695651,3	MCF-7	breast:
13	chr14:21701295..21703897-chr14:21842847..21844816,2	K562	blood:
14	chr14:21693897..21696287-chr14:21697693..21699840,2	MCF-7	breast:
15	chr14:21670001..21672457-chr14:21706378..21709017,2	K562	blood:
16	chr14:21684971..21687405-chr14:21736664..21738674,3	MCF-7	breast:
17	chr14:21692516..21695452-chr14:21813712..21815448,2	MCF-7	breast:
18	chr14:21692662..21694223-chr14:21694596..21696164,2	MCF-7	breast:
19	chr14:21703629..21706503-chr14:21849764..21851749,2	MCF-7	breast:
20	chr14:21694684..21697867-chr14:21700846..21706348,4	MCF-7	breast:
21	chr14:21700872..21703141-chr14:21723886..21726612,2	K562	blood:
22	chr14:21709944..21712875-chr14:21904000..21906310,2	MCF-7	breast:
23	chr14:21709277..21713584-chr14:21714708..21717034,3	K562	blood:
24	chr14:21687620..21689527-chr14:21733855..21735500,2	MCF-7	breast:
25	chr14:21678499..21681454-chr14:21736107..21737906,2	MCF-7	breast:
26	chr14:21682936..21686679-chr14:21688141..21690652,4	K562	blood:
27	chr14:21679834..21681471-chr14:21683651..21685737,2	K562	blood:
28	chr14:21694684..21697867-chr14:21700846..21706348,4	MCF-7	breast:
29	chr14:21712084..21713640-chr14:21715379..21717034,2	K562	blood:
30	chr14:21692662..21694223-chr14:21694596..21696164,2	MCF-7	breast:
31	chr14:21713934..21716894-chr14:21726084..21727992,2	MCF-7	breast:
32	chr14:21704009..21707025-chr14:21707040..21709471,4	MCF-7	breast:
33	chr14:21708482..21710752-chr14:21732706..21735405,2	MCF-7	breast:
34	chr14:21691458..21693876-chr14:21698799..21700473,3	K562	blood:
35	chr14:21704014..21706045-chr14:21718733..21720971,2	K562	blood:
36	chr14:21682890..21684914-chr14:21686115..21687924,2	K562	blood:
37	chr14:21709277..21713584-chr14:21714708..21717034,3	K562	blood:
38	chr14:21690598..21692490-chr14:21705492..21708066,2	MCF-7	breast:
39	chr14:21702039..21704805-chr14:21710008..21711834,2	MCF-7	breast:
40	chr14:21709126..21711410-chr14:21715324..21718061,2	MCF-7	breast:
41	chr14:21709759..21712361-chr14:21720311..21725270,5	K562	blood:
42	chr14:21719014..21721564-chr14:21851971..21854155,2	K562	blood:
43	chr14:21689000..21691268-chr14:21851211..21853511,2	MCF-7	breast:
44	chr14:21720243..21722004-chr14:21769243..21771035,2	K562	blood:
45	chr14:21698033..21699942-chr14:21736432..21738329,2	MCF-7	breast:
46	chr14:21715916..21717624-chr14:21774839..21777114,2	MCF-7	breast:
47	chr14:21712084..21713640-chr14:21715379..21717034,2	K562	blood:
48	chr14:21725191..21730004-chr14:21826474..21830888,4	K562	blood:
49	chr14:21705854..21707392-chr14:21708475..21711254,2	K562	blood:
50	chr14:21727224..21727734-chr6:45404153..45404890,2	NB4	blood:

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HNRNPC	hsa-miR-30c-5p	chr14:21678667-21678690
2	HNRNPC	hsa-miR-186-5p	chr14:21679340-21679361
3	HNRNPC	hsa-miR-186-5p	chr14:21679345-21679339
4	HNRNPC	hsa-miR-186-5p	chr14:21679046-21679067
5	HNRNPC	hsa-let-7e-5p	chr14:21679132-21679153
6	HNRNPC	hsa-miR-335-5p	chr14:21678975-21678999
7	HNRNPC	hsa-miR-30c-5p	chr14:21678673-21678667
8	HNRNPC	hsa-miR-142-3p	chr14:21678567-21678589
9	HNRNPC	hsa-miR-142-3p	chr14:21678022-21678046
10	HNRNPC	hsa-miR-335-5p	chr14:21679069-21679091

Variant related genes	Relation type
LINC00641	TF binding region
HNRNPC	TF binding region
LINC00641	CpG island
HNRNPC	CpG island
ENSG00000092201	chromatin interactions
ENSG00000260830	chromatin interactions
ENSG00000092200	chromatin interactions
ENSG00000258441	chromatin interactions
ENSG00000100888	chromatin interactions
ENSG00000092199	chromatin interactions

Extended variants
information (count: 2349 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2349 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558641578	chr14:21676250-21676251	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575324339	chr14:21676259-21676260	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200186807	chr14:21676264-21676265	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111359224	chr14:21676292-21676293	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544041234	chr14:21676309-21676310	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs147735971	chr14:21676344-21676345	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs529891117	chr14:21676357-21676358	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540145894	chr14:21676393-21676394	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs142660097	chr14:21676394-21676395	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374773295	chr14:21676404-21676405	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371686801	chr14:21676424-21676425	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs9322956	chr14:21676425-21676426	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552365598	chr14:21676468-21676469	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569365601	chr14:21676476-21676477	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531934103	chr14:21676507-21676508	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548848439	chr14:21676525-21676526	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568675226	chr14:21676527-21676528	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370015279	chr14:21676532-21676533	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146322786	chr14:21676548-21676549	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145733283	chr14:21676549-21676550	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540575350	chr14:21676555-21676556	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs61979498	chr14:21676563-21676564	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538657698	chr14:21676616-21676617	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534871446	chr14:21676644-21676645	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558355311	chr14:21676650-21676651	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376299437	chr14:21676652-21676653	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575041819	chr14:21676677-21676678	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78546623	chr14:21676683-21676684	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546575867	chr14:21676696-21676697	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554302582	chr14:21676715-21676716	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181502485	chr14:21676728-21676729	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185983834	chr14:21676740-21676741	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114118189	chr14:21676742-21676743	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577151738	chr14:21676751-21676752	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs116438138	chr14:21676777-21676778	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191366795	chr14:21676799-21676800	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs35989188	chr14:21676804-21676805	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543282389	chr14:21676830-21676831	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531794956	chr14:21676867-21676868	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548713227	chr14:21676889-21676890	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567935033	chr14:21676891-21676892	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562232320	chr14:21676898-21676899	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs183079096	chr14:21676899-21676900	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs185980692	chr14:21676922-21676923	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571158865	chr14:21676927-21676928	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538247698	chr14:21676937-21676938	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs541427543	chr14:21676940-21676941	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552102966	chr14:21677081-21677082	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs568520868	chr14:21677122-21677123	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs372763708	chr14:21677123-21677124	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ewing''s sarcoma	18628472	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2213 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
2	chr14:21660800-21678200	Weak transcription	Right Ventricle	heart
3	chr14:21660800-21679400	Weak transcription	Gastric	stomach
4	chr14:21661000-21679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:21664800-21677600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:21665400-21677000	Weak transcription	Ovary	ovary
7	chr14:21669000-21679400	Weak transcription	Aorta	Aorta
8	chr14:21669000-21685800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:21669400-21679800	Weak transcription	Small Intestine	intestine
10	chr14:21669400-21681600	Strong transcription	Left Ventricle	heart
11	chr14:21669400-21685600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr14:21669800-21676400	Weak transcription	Brain Angular Gyrus	brain
13	chr14:21670000-21679600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:21670000-21681600	Strong transcription	Fetal Muscle Leg	muscle
15	chr14:21670200-21683600	Strong transcription	Fetal Thymus	thymus
16	chr14:21670200-21684200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:21670200-21684600	Strong transcription	NHLF	lung
18	chr14:21670200-21685000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:21670200-21685400	Strong transcription	HSMM	muscle
20	chr14:21670200-21685400	Strong transcription	NH-A	brain
21	chr14:21670200-21685400	Strong transcription	Osteobl	bone
22	chr14:21670400-21676800	Weak transcription	Esophagus	oesophagus
23	chr14:21670400-21679400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:21670600-21676800	Weak transcription	Pancreas	Pancrea
26	chr14:21670600-21683400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:21670800-21682400	Strong transcription	A549	lung
28	chr14:21670800-21684800	Strong transcription	HSMMtube	muscle
29	chr14:21670800-21685000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
31	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr14:21671000-21676800	Weak transcription	Stomach Mucosa	stomach
33	chr14:21671200-21676800	Strong transcription	GM12878-XiMat	blood
34	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:21671400-21681000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:21671400-21684600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:21671400-21684800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr14:21671600-21681600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:21671600-21682800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:21671600-21686000	Strong transcription	HUVEC	blood vessel
41	chr14:21671600-21688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:21671800-21679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:21671800-21683600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:21672200-21680000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:21672200-21684200	Strong transcription	HMEC	breast
46	chr14:21672200-21696600	Strong transcription	Primary B cells from cord blood	blood
47	chr14:21672400-21680000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:21672400-21680800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:21672400-21684800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:21672400-21696000	Strong transcription	Adipose Nuclei	Adipose

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