Variant report

Variant	nsv901844
Chromosome Location	chr14:45606287-46063731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2968)
CpG islands
(count:1404)
Chromatin interactive
region (count:98)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2968 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:45607125-45607283	K562	blood:	n/a	n/a
2	ARID3A	chr14:45756958-45756994	K562	blood:	n/a	n/a
3	ARID3A	chr14:45721346-45721411	K562	blood:	n/a	n/a
4	ARID3A	chr14:45722356-45723128	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:45719321-45719834	K562	blood:	n/a	n/a
6	ARID3A	chr14:45722305-45722539	K562	blood:	n/a	n/a
7	ATF1	chr14:45719315-45719720	K562	blood:	n/a	n/a
8	ATF2	chr14:45722322-45723116	GM12878	blood:	n/a	n/a
9	ATF2	chr14:45720949-45721641	GM12878	blood:	n/a	n/a
10	ATF2	chr14:45654284-45654680	GM12878	blood:	n/a	n/a
11	ATF2	chr14:45722376-45723046	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr14:45654344-45654869	GM12878	blood:	n/a	n/a
13	ATF2	chr14:45721046-45721503	GM12878	blood:	n/a	n/a
14	ATF2	chr14:45722269-45723075	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr14:45722078-45723054	GM12878	blood:	n/a	n/a
16	ATF3	chr14:45722372-45722682	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr14:45722453-45723019	A549	lung:	n/a	n/a
18	ATF3	chr14:45741418-45741630	K562	blood:	n/a	n/a
19	ATF3	chr14:45722329-45723000	A549	lung:	n/a	n/a
20	BACH1	chr14:45722065-45723061	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr14:45625307-45625620	GM12878	blood:	n/a	n/a
22	BATF	chr14:45614575-45614771	GM12878	blood:	n/a	n/a
23	BATF	chr14:45721069-45721411	GM12878	blood:	n/a	n/a
24	BATF	chr14:45625249-45625630	GM12878	blood:	n/a	n/a
25	BATF	chr14:45721023-45721508	GM12878	blood:	n/a	n/a
26	BATF	chr14:45654382-45654581	GM12878	blood:	n/a	chr14:45654495-45654506
27	BATF	chr14:45654320-45654609	GM12878	blood:	n/a	chr14:45654495-45654506
28	BCL11A	chr14:45722473-45722840	GM12878	blood:	n/a	n/a
29	BCL11A	chr14:45721145-45721473	GM12878	blood:	n/a	n/a
30	BCL3	chr14:45722203-45723416	A549	lung:	n/a	n/a
31	BCL3	chr14:45722180-45723071	A549	lung:	n/a	n/a
32	BCLAF1	chr14:45721060-45721557	GM12878	blood:	n/a	n/a
33	BCLAF1	chr14:45722194-45723134	GM12878	blood:	n/a	n/a
34	BCLAF1	chr14:45722060-45723125	GM12878	blood:	n/a	n/a
35	BCLAF1	chr14:45737709-45738137	GM12878	blood:	n/a	n/a
36	BHLHE40	chr14:45737784-45738081	GM12878	blood:	n/a	n/a
37	BHLHE40	chr14:45723324-45723381	GM12878	blood:	n/a	n/a
38	BHLHE40	chr14:45721733-45721803	K562	blood:	n/a	n/a
39	BHLHE40	chr14:45721077-45721534	GM12878	blood:	n/a	n/a
40	BHLHE40	chr14:45722164-45723101	GM12878	blood:	n/a	n/a
41	BHLHE40	chr14:45722265-45722799	K562	blood:	n/a	n/a
42	BHLHE40	chr14:45722198-45723003	HepG2	liver:	n/a	n/a
43	BHLHE40	chr14:45619850-45619857	K562	blood:	n/a	n/a
44	BHLHE40	chr14:45718701-45719749	GM12878	blood:	n/a	n/a
45	BRCA1	chr14:45722007-45723004	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr14:45722387-45723098	HepG2	liver:	n/a	n/a
47	BRCA1	chr14:45681497-45681782	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr14:45722287-45722946	GM12878	blood:	n/a	n/a
49	CBX3	chr14:45727253-45727633	K562	blood:	n/a	n/a
50	CBX3	chr14:45751009-45751267	K562	blood:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45722617-45722667	HEEpiC	esophagus:	n/a
2	chr14:45722617-45722667	HEEpiC	esophagus:	n/a
3	chr14:45722438-45722488	NH-A	brain:	n/a
4	chr14:45722043-45722093	HIPEpiC	eye:	n/a
5	chr14:45608106-45608156	HEK293	kidney:	embryo
6	chr14:45607331-45607381	H1-hESC	embryonic stem cell:	embryo
7	chr14:45722438-45722488	BE2_C	brain:	n/a
8	chr14:45722438-45722488	AG09319	gingival:	n/a
9	chr14:45722721-45722771	HPAEpiC	pulmonary alveolar:	n/a
10	chr14:45722043-45722093	AoSMC	blood vessel:	n/a
11	chr14:45870299-45870349	GM12891	blood:	n/a
12	chr14:45723353-45723403	HNPCEpiC	eye:	n/a
13	chr14:45608106-45608156	PFSK-1	brain:	n/a
14	chr14:45722617-45722667	AG09319	gingival:	n/a
15	chr14:45722721-45722771	AG04450	lung:	fetal
16	chr14:45719962-45720012	HNPCEpiC	eye:	n/a
17	chr14:45693776-45693826	HRE	kidney:	n/a
18	chr14:45722438-45722488	BJ	skin:	n/a
19	chr14:45725455-45725505	A549	lung:	n/a
20	chr14:45722043-45722093	AG09319	gingival:	n/a
21	chr14:45722622-45722672	LNCaP	prostate:	n/a
22	chr14:45693776-45693826	Hela-S3	cervix:	n/a
23	chr14:45722289-45722339	Jurkat	blood:	n/a
24	chr14:45840127-45840177	H1-hESC	embryonic stem cell:	embryo
25	chr14:45607331-45607381	GM06990	blood:	n/a
26	chr14:45722438-45722488	HNPCEpiC	eye:	n/a
27	chr14:45722721-45722771	AG09309	skin:	n/a
28	chr14:45722721-45722771	BE2_C	brain:	n/a
29	chr14:45693776-45693826	MCF10A-Er-Src	breast:	n/a
30	chr14:45619710-45619760	NHBE	bronchial:	n/a
31	chr14:45840127-45840177	HL-60	blood:	n/a
32	chr14:45725455-45725505	BE2_C	brain:	n/a
33	chr14:45619710-45619760	HL-60	blood:	n/a
34	chr14:45723353-45723403	PrEC	prostate:	n/a
35	chr14:45722622-45722672	Hepatocyte	liver:	n/a
36	chr14:45722711-45722761	HL-60	blood:	n/a
37	chr14:45693776-45693826	NHDF-neo	bronchial:	n/a
38	chr14:45608106-45608156	ECC-1	luminal epithelium:	n/a
39	chr14:45722617-45722667	BE2_C	brain:	n/a
40	chr14:45722043-45722093	HEK293	kidney:	embryo
41	chr14:45619710-45619760	SK-N-SH	brain:	n/a
42	chr14:45681130-45681180	HMEC	breast:	n/a
43	chr14:45722745-45722795	HMEC	breast:	n/a
44	chr14:45722289-45722339	AG04450	lung:	fetal
45	chr14:45870299-45870349	HepG2	liver:	n/a
46	chr14:45722622-45722672	K562	blood:	n/a
47	chr14:45840127-45840177	HCM	heart:	n/a
48	chr14:45722617-45722667	NT2-D1	testis:	n/a
49	chr14:45722617-45722667	GM12892	blood:	n/a
50	chr14:45722617-45722667	SK-N-SH	brain:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
2	chr12:57039223..57039923-chr14:45722606..45723303,3	Hela-S3	cervix:
3	chr14:45720720..45725312-chr14:45736349..45740437,5	MCF-7	breast:
4	chr14:45382903..45383965-chr14:45737675..45738717,4	MCF-7	breast:
5	chr14:45602127..45604753-chr14:45663280..45664995,2	K562	blood:
6	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
7	chr14:45773220..45776127-chr14:45776332..45778274,2	K562	blood:
8	chr14:45656403..45658516-chr14:45660944..45662467,2	K562	blood:
9	chr14:45625132..45625884-chr14:45737446..45738063,2	MCF-7	breast:
10	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
11	chr14:45827598..45829425-chr14:45832240..45834984,2	MCF-7	breast:
12	chr14:45383078..45384611-chr14:45736865..45739302,2	MCF-7	breast:
13	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
14	chr14:45721810..45725859-chr14:45742099..45745950,4	MCF-7	breast:
15	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
16	chr14:45588121..45589844-chr14:45722977..45725072,2	MCF-7	breast:
17	chr14:45691934..45693449-chr14:45696943..45699176,2	K562	blood:
18	chr14:45722872..45725627-chr6:151936857..151939807,2	MCF-7	breast:
19	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
20	chr14:45427536..45430475-chr14:45702216..45704003,2	MCF-7	breast:
21	chr14:45600775..45605834-chr14:45607431..45611467,5	K562	blood:
22	chr14:45602273..45605265-chr14:45642579..45644553,2	K562	blood:
23	chr14:45687729..45690041-chr14:45727283..45730126,2	MCF-7	breast:
24	chr14:45705828..45707853-chr14:45712067..45713833,2	MCF-7	breast:
25	chr14:45687729..45690041-chr14:45727283..45730126,2	MCF-7	breast:
26	chr14:45722854..45723434-chr16:58133168..58133726,2	Hela-S3	cervix:
27	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
28	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
29	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
30	chr14:45710340..45712436-chr14:45717199..45718785,2	K562	blood:
31	chr14:45602740..45605100-chr14:45878381..45880365,2	MCF-7	breast:
32	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
33	chr14:45603108..45605059-chr14:45614018..45615629,2	MCF-7	breast:
34	chr14:45833828..45835787-chr14:45839702..45842192,2	K562	blood:
35	chr14:45601339..45606570-chr14:45722040..45724234,5	MCF-7	breast:
36	chr14:45644589..45646805-chr14:45647065..45649190,2	MCF-7	breast:
37	chr14:45642220..45642925-chr3:15744255..15744957,2	MCF-7	breast:
38	chr14:45553320..45554876-chr14:45714486..45717051,2	MCF-7	breast:
39	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
40	chr14:45694223..45697049-chr14:45698740..45700285,2	MCF-7	breast:
41	chr14:45685240..45687298-chr14:45720585..45723076,3	MCF-7	breast:
42	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:
43	chr14:45646929..45649462-chr14:45654558..45656763,2	MCF-7	breast:
44	chr14:45656819..45659506-chr14:45660040..45662429,2	MCF-7	breast:
45	chr14:45773220..45776127-chr14:45776332..45778274,2	K562	blood:
46	chr14:45686107..45687762-chr14:45690823..45693059,2	MCF-7	breast:
47	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
48	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
49	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
50	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP3-5	chr14:45700344-45700644	NONHSAT036648
2	lnc-FKBP3-5	chr14:45696890-45697017	NONHSAT036648
3	lnc-FKBP3-4	chr14:45675286-45675647	NONHSAT036646
4	lnc-FKBP3-4	chr14:45675286-45675477	NONHSAT036647
5	lnc-FKBP3-6	chr14:45711237-45711589	NONHSAT036649
6	lnc-FANCM-4	chr14:46037729-46038272	ENSG00000258845
7	lnc-FANCM-8	chr14:45759448-45759483	NONHSAT036653
8	lnc-FKBP3-4	chr14:45673602-45673656	NONHSAT036646
9	lnc-FANCM-8	chr14:45759209-45759392	NONHSAT036653
10	lnc-FANCM-8	chr14:45759144-45759367	NONHSAT036652
11	lnc-FKBP3-6	chr14:45710671-45711073	NONHSAT036649
12	lnc-FANCM-4	chr14:46037198-46037298	ENSG00000258845
13	lnc-FANCM-8	chr14:45759448-45759479	NONHSAT036652
14	lnc-FANCM-8	chr14:45759239-45759589	NONHSAT036654
15	lnc-FKBP3-4	chr14:45673040-45673415	NONHSAT036646
16	lnc-FKBP3-4	chr14:45673583-45673656	NONHSAT036647

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C14orf106	hsa-miR-421	chr14:45672809-45672831

Variant related genes	Relation type
ENSG00000260046	TF binding region
FKBP3	TF binding region
DNAJC19P9	TF binding region
RNU6-552P	TF binding region
MIS18BP1	TF binding region
ENSG00000257900	TF binding region
ENSG00000258746	TF binding region
ENSG00000258845	TF binding region
FANCM	TF binding region
ENSG00000260046	CpG island
FKBP3	CpG island
DNAJC19P9	CpG island
RNU6-552P	CpG island
MIS18BP1	CpG island
ENSG00000257900	CpG island
ENSG00000258746	CpG island
ENSG00000258845	CpG island
FANCM	CpG island
ENSG00000179476	chromatin interactions
ENSG00000258633	chromatin interactions
ENSG00000258949	chromatin interactions
ENSG00000185246	chromatin interactions
ENSG00000207422	chromatin interactions
ENSG00000129534	chromatin interactions
ENSG00000266401	chromatin interactions
ENSG00000199739	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000179454	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000100442	chromatin interactions
ENSG00000187790	chromatin interactions
ENSG00000198718	chromatin interactions
ENSG00000176476	chromatin interactions

Extended variants
information (count: 8773 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:8773 , 50 per page) page: 1 2 3 4 5 6 7 ... 176

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10138997	chr14:45606287-45606288	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77374493	chr14:45606290-45606291	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs151248588	chr14:45606301-45606302	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs368937236	chr14:45606310-45606311	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs149010517	chr14:45606328-45606329	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs139736490	chr14:45606364-45606365	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs45547534	chr14:45606387-45606388	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532404406	chr14:45606413-45606414	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs200644561	chr14:45606456-45606457	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs550516414	chr14:45606500-45606501	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs542632043	chr14:45606505-45606506	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs369858493	chr14:45606516-45606517	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs529830301	chr14:45606533-45606534	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs111961783	chr14:45606548-45606549	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs181784613	chr14:45606552-45606553	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs371824355	chr14:45606559-45606560	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs555664813	chr14:45606571-45606572	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs567756579	chr14:45606658-45606659	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs377015791	chr14:45606688-45606689	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs75467645	chr14:45606698-45606699	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs553356813	chr14:45606707-45606708	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs571868876	chr14:45606829-45606830	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs369979862	chr14:45606886-45606887	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs539286026	chr14:45606888-45606889	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs186225423	chr14:45606927-45606928	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs188986605	chr14:45606952-45606953	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs542802924	chr14:45607011-45607012	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs143747577	chr14:45607053-45607054	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs572556158	chr14:45607060-45607061	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs539860381	chr14:45607103-45607104	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs116807795	chr14:45607144-45607145	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs531994429	chr14:45607151-45607152	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs552888837	chr14:45607154-45607155	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs544521484	chr14:45607162-45607163	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs563288471	chr14:45607163-45607164	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs139353488	chr14:45607164-45607165	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs562638261	chr14:45607171-45607172	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs559139972	chr14:45607191-45607192	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs529942664	chr14:45607206-45607207	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs145590256	chr14:45607216-45607217	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs548366921	chr14:45607300-45607301	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs567764635	chr14:45607347-45607348	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs557045208	chr14:45607353-45607354	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs73340655	chr14:45607386-45607387	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547032797	chr14:45607452-45607453	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs148141439	chr14:45607465-45607466	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs73340659	chr14:45607524-45607525	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs559060556	chr14:45607608-45607609	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs375620639	chr14:45607635-45607636	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs557674876	chr14:45607675-45607676	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2987 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45606600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:45602000-45607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:45602000-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:45602200-45606400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:45602200-45607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:45602200-45607600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:45602200-45607600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:45602200-45608000	Active TSS	K562	blood
11	chr14:45602400-45606400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:45602400-45606600	Active TSS	Hela-S3	cervix
13	chr14:45602400-45606800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:45602600-45606400	Active TSS	Right Ventricle	heart
15	chr14:45602600-45606400	Active TSS	HSMMtube	muscle
16	chr14:45602600-45606600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:45602600-45606600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr14:45602600-45606600	Active TSS	Fetal Kidney	kidney
19	chr14:45602600-45606600	Active TSS	HSMM	muscle
20	chr14:45602600-45606800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:45602600-45606800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:45602600-45606800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:45602600-45607000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr14:45602600-45607400	Active TSS	NHLF	lung
25	chr14:45602800-45606400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:45602800-45606400	Active TSS	A549	lung
27	chr14:45602800-45606400	Active TSS	NHEK	skin
28	chr14:45602800-45606600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:45602800-45606600	Active TSS	Fetal Intestine Large	intestine
30	chr14:45602800-45606600	Active TSS	Fetal Muscle Leg	muscle
31	chr14:45602800-45607200	Active TSS	Fetal Thymus	thymus
32	chr14:45602800-45608000	Active TSS	NHDF-Ad	bronchial
33	chr14:45603000-45606600	Active TSS	HMEC	breast
34	chr14:45603400-45606400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:45603400-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:45605200-45606400	Flanking Active TSS	Liver	Liver
37	chr14:45605200-45606400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr14:45605400-45606400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr14:45605400-45606400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr14:45605400-45606400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr14:45605400-45606600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:45605400-45606600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr14:45605400-45606600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr14:45605400-45606800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:45605400-45607000	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr14:45605400-45607000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr14:45605400-45607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:45605600-45606400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr14:45605600-45606600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:45605600-45606600	Flanking Active TSS	Brain Anterior Caudate	brain

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