Variant report

Variant	nsv530814
Chromosome Location	chr14:45604432-46198418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4062)
CpG islands
(count:1954)
Chromatin interactive
region (count:121)
LncRNA
region (count:38)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:4062 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

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	chr14:45604538-45605312	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:45721346-45721411	K562	blood:	n/a	n/a
4	ARID3A	chr14:45756958-45756994	K562	blood:	n/a	n/a
5	ARID3A	chr14:45722356-45723128	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:45719321-45719834	K562	blood:	n/a	n/a
7	ARID3A	chr14:45722305-45722539	K562	blood:	n/a	n/a
8	ARID3A	chr14:45604709-45605187	K562	blood:	n/a	n/a
9	ATF1	chr14:45604681-45605246	K562	blood:	n/a	n/a
10	ATF1	chr14:45719315-45719720	K562	blood:	n/a	n/a
11	ATF2	chr14:45721046-45721503	GM12878	blood:	n/a	n/a
12	ATF2	chr14:45722322-45723116	GM12878	blood:	n/a	n/a
13	ATF2	chr14:45654344-45654869	GM12878	blood:	n/a	n/a
14	ATF2	chr14:45722269-45723075	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr14:45722376-45723046	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr14:45604710-45605306	GM12878	blood:	n/a	n/a
17	ATF2	chr14:45604716-45605268	GM12878	blood:	n/a	n/a
18	ATF2	chr14:45722078-45723054	GM12878	blood:	n/a	n/a
19	ATF2	chr14:45654284-45654680	GM12878	blood:	n/a	n/a
20	ATF2	chr14:45720949-45721641	GM12878	blood:	n/a	n/a
21	ATF3	chr14:45741418-45741630	K562	blood:	n/a	n/a
22	ATF3	chr14:45604772-45605239	A549	lung:	n/a	n/a
23	ATF3	chr14:45722453-45723019	A549	lung:	n/a	n/a
24	ATF3	chr14:45722372-45722682	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr14:45722329-45723000	A549	lung:	n/a	n/a
26	BACH1	chr14:45722065-45723061	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr14:45654382-45654581	GM12878	blood:	n/a	chr14:45654495-45654506
28	BATF	chr14:45721069-45721411	GM12878	blood:	n/a	n/a
29	BATF	chr14:45625249-45625630	GM12878	blood:	n/a	n/a
30	BATF	chr14:45721023-45721508	GM12878	blood:	n/a	n/a
31	BATF	chr14:45625307-45625620	GM12878	blood:	n/a	n/a
32	BATF	chr14:45654320-45654609	GM12878	blood:	n/a	chr14:45654495-45654506
33	BATF	chr14:45614575-45614771	GM12878	blood:	n/a	n/a
34	BCL11A	chr14:45722473-45722840	GM12878	blood:	n/a	n/a
35	BCL11A	chr14:45721145-45721473	GM12878	blood:	n/a	n/a
36	BCL3	chr14:45722180-45723071	A549	lung:	n/a	n/a
37	BCL3	chr14:45722203-45723416	A549	lung:	n/a	n/a
38	BCL3	chr14:45604642-45605322	A549	lung:	n/a	n/a
39	BCLAF1	chr14:45722060-45723125	GM12878	blood:	n/a	n/a
40	BCLAF1	chr14:45604702-45605665	GM12878	blood:	n/a	n/a
41	BCLAF1	chr14:45721060-45721557	GM12878	blood:	n/a	n/a
42	BCLAF1	chr14:45722194-45723134	GM12878	blood:	n/a	n/a
43	BCLAF1	chr14:45604718-45605516	GM12878	blood:	n/a	n/a
44	BCLAF1	chr14:45737709-45738137	GM12878	blood:	n/a	n/a
45	BCLAF1	chr14:45604836-45605096	K562	blood:	n/a	n/a
46	BCLAF1	chr14:45604651-45605146	K562	blood:	n/a	n/a
47	BHLHE40	chr14:45723324-45723381	GM12878	blood:	n/a	n/a
48	BHLHE40	chr14:45721733-45721803	K562	blood:	n/a	n/a
49	BHLHE40	chr14:45737784-45738081	GM12878	blood:	n/a	n/a
50	BHLHE40	chr14:45722198-45723003	HepG2	liver:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45681130-45681180	Jurkat	blood:	n/a
2	chr14:45605002-45605052	ovcar-3	ovarian:	n/a
3	chr14:45681130-45681180	Jurkat	blood:	n/a
4	chr14:45605002-45605052	ovcar-3	ovarian:	n/a
5	chr14:45722532-45722582	K562	blood:	n/a
6	chr14:45722289-45722339	Hepatocyte	liver:	n/a
7	chr14:45605353-45605403	HMEC	breast:	n/a
8	chr14:45719962-45720012	HAEpiC	amniotic membrane:	n/a
9	chr14:45759143-45759193	AG10803	skin:	n/a
10	chr14:45759143-45759193	NT2-D1	testis:	n/a
11	chr14:45608106-45608156	NT2-D1	testis:	n/a
12	chr14:45605002-45605052	AG04450	lung:	fetal
13	chr14:45605474-45605524	AG10803	skin:	n/a
14	chr14:45722745-45722795	HepG2	liver:	n/a
15	chr14:45722704-45722754	BJ	skin:	n/a
16	chr14:45605474-45605524	IMR90	lung:	fetal
17	chr14:45605172-45605222	HIPEpiC	eye:	n/a
18	chr14:45722438-45722488	HEK293	kidney:	embryo
19	chr14:45605129-45605179	HCPEpiC	choroid plexus:	n/a
20	chr14:45607331-45607381	CMK	blood:	n/a
21	chr14:45722711-45722761	HEK293	kidney:	embryo
22	chr14:45605121-45605171	SK-N-SH_RA	brain:	n/a
23	chr14:45722438-45722488	SK-N-MC	brain:	n/a
24	chr14:45722622-45722672	Hepatocyte	liver:	n/a
25	chr14:45693776-45693826	SK-N-SH	brain:	n/a
26	chr14:45722704-45722754	HCT-116	colon:	n/a
27	chr14:45722532-45722582	AoSMC	blood vessel:	n/a
28	chr14:45605087-45605137	GM12891	blood:	n/a
29	chr14:45722532-45722582	HRE	kidney:	n/a
30	chr14:45607331-45607381	SKMC	muscle:	n/a
31	chr14:45607331-45607381	Caco-2	colon:	n/a
32	chr14:45723353-45723403	IMR90	lung:	fetal
33	chr14:45722289-45722339	SKMC	muscle:	n/a
34	chr14:45605027-45605077	NT2-D1	testis:	n/a
35	chr14:45605087-45605137	MCF-7	breast:	n/a
36	chr14:45605087-45605137	NH-A	brain:	n/a
37	chr14:45722704-45722754	HRE	kidney:	n/a
38	chr14:45605353-45605403	LNCaP	prostate:	n/a
39	chr14:45619710-45619760	HepG2	liver:	n/a
40	chr14:45722704-45722754	AG09319	gingival:	n/a
41	chr14:45605002-45605052	HCT-116	colon:	n/a
42	chr14:45719962-45720012	GM19239	blood:	n/a
43	chr14:45605474-45605524	H1-hESC	embryonic stem cell:	embryo
44	chr14:45870299-45870349	GM12878	blood:	n/a
45	chr14:45722289-45722339	A549	lung:	n/a
46	chr14:45930824-45930874	AG09309	skin:	n/a
47	chr14:45759143-45759193	HepG2	liver:	n/a
48	chr14:45725455-45725505	GM06990	blood:	n/a
49	chr14:45605353-45605403	ProgFib	skin:	n/a
50	chr14:45840127-45840177	ECC-1	luminal epithelium:	n/a

(count:121 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:45601512..45605313-chr14:45605494..45608093,6	K562	blood:
2	chr14:46185365..46185918-chr14:46409681..46410218,2	MCF-7	breast:
3	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
4	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
5	chr14:46120979..46122575-chr14:46124329..46126907,2	K562	blood:
6	chr14:45429027..45431300-chr14:45604077..45605830,2	K562	blood:
7	chr14:45833828..45835787-chr14:45839702..45842192,2	K562	blood:
8	chr14:45694223..45697049-chr14:45698740..45700285,2	MCF-7	breast:
9	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
10	chr14:45727473..45730434-chr14:45734970..45737678,2	MCF-7	breast:
11	chr14:46185447..46186022-chr14:46279860..46280372,3	MCF-7	breast:
12	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
13	chr14:45603451..45606015-chr14:45719614..45721854,2	K562	blood:
14	chr14:45722471..45723281-chr15:75743983..75744975,2	Hela-S3	cervix:
15	chr14:45642220..45642925-chr3:15744255..15744957,2	MCF-7	breast:
16	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
17	chr14:45588121..45589844-chr14:45722977..45725072,2	MCF-7	breast:
18	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
19	chr14:45625132..45625884-chr14:45737446..45738063,2	MCF-7	breast:
20	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
21	chr14:45610857..45613853-chr14:45722089..45724947,2	MCF-7	breast:
22	chr14:45722854..45723434-chr16:58133168..58133726,2	Hela-S3	cervix:
23	chr14:45678908..45681403-chr14:45684566..45687731,3	K562	blood:
24	chr14:45602127..45604753-chr14:45663280..45664995,2	K562	blood:
25	chr14:45685240..45687298-chr14:45720585..45723076,3	MCF-7	breast:
26	chr14:45687729..45690041-chr14:45727283..45730126,2	MCF-7	breast:
27	chr14:45678908..45681403-chr14:45684566..45687731,3	K562	blood:
28	chr14:45835845..45838000-chr14:45843048..45845340,2	K562	blood:
29	chr14:45835845..45838000-chr14:45843048..45845340,2	K562	blood:
30	chr14:45895702..45896616-chr14:45996086..45997189,11	MCF-7	breast:
31	chr14:46147083..46148164-chr14:46409225..46410271,4	MCF-7	breast:
32	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
33	chr14:46119850..46120526-chr14:46279646..46280307,2	MCF-7	breast:
34	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
35	chr14:45827598..45829425-chr14:45832240..45834984,2	MCF-7	breast:
36	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
37	chr14:45694223..45697049-chr14:45698740..45700285,2	MCF-7	breast:
38	chr14:45603108..45605059-chr14:45614018..45615629,2	MCF-7	breast:
39	chr14:45656403..45658516-chr14:45660944..45662467,2	K562	blood:
40	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
41	chr14:45382584..45383476-chr14:45670758..45671337,2	MCF-7	breast:
42	chr14:45382903..45383965-chr14:45737675..45738717,4	MCF-7	breast:
43	chr14:45603146..45606664-chr14:45606745..45609948,6	MCF-7	breast:
44	chr14:45717265..45719179-chr14:45721039..45722598,2	K562	blood:
45	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
46	chr14:45773220..45776127-chr14:45776332..45778274,2	K562	blood:
47	chr14:45601512..45605313-chr14:45605494..45608093,6	K562	blood:
48	chr14:45646929..45649462-chr14:45654558..45656763,2	MCF-7	breast:
49	chr14:45644589..45646805-chr14:45647065..45649190,2	MCF-7	breast:
50	chr14:45656819..45659506-chr14:45660040..45662429,2	MCF-7	breast:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
2	lnc-FKBP3-5	chr14:45700344-45700644	NONHSAT036648
3	lnc-FKBP3-4	chr14:45675286-45675647	NONHSAT036646
4	lnc-FKBP3-6	chr14:45711237-45711589	NONHSAT036649
5	lnc-FANCM-8	chr14:45759448-45759483	NONHSAT036653
6	lnc-FKBP3-5	chr14:45696890-45697017	NONHSAT036648
7	lnc-FANCM-8	chr14:45759448-45759479	NONHSAT036652
8	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
9	lnc-MIS18BP1-1	chr14:46184553-46185084	NONHSAT036669
10	lnc-MIS18BP1-1	chr14:46175463-46175705	ENSG00000258616
11	lnc-MIS18BP1-1	chr14:46184553-46185114	NONHSAT036666
12	lnc-FKBP3-4	chr14:45673583-45673656	NONHSAT036647
13	lnc-FKBP3-4	chr14:45673602-45673656	NONHSAT036646
14	lnc-FKBP3-4	chr14:45675286-45675477	NONHSAT036647
15	lnc-FANCM-8	chr14:45759144-45759367	NONHSAT036652
16	lnc-FANCM-5	chr14:46179124-46179145	NONHSAT036668
17	lnc-MIS18BP1-1	chr14:46177058-46177101	NONHSAT036666
18	lnc-FKBP3-6	chr14:45710671-45711073	NONHSAT036649
19	lnc-MIS18BP1-1	chr14:46175475-46175705	ENSG00000258616
20	lnc-FANCM-8	chr14:45759239-45759589	NONHSAT036654
21	lnc-MIS18BP1-1	chr14:46183487-46183656	ENSG00000258616
22	lnc-MIS18BP1-1	chr14:46183506-46183653	NONHSAT036669
23	lnc-FANCM-5	chr14:46195358-46195474	NONHSAT036670
24	lnc-MIS18BP1-1	chr14:46175495-46175705	XLOC_011012
25	lnc-MIS18BP1-1	chr14:46183487-46183623	ENSG00000258616
26	lnc-FANCM-4	chr14:46037198-46037298	ENSG00000258845
27	lnc-MIS18BP1-1	chr14:46181102-46181226	XLOC_011012
28	lnc-MIS18BP1-1	chr14:46181102-46181156	ENSG00000258616
29	lnc-MIS18BP1-1	chr14:46184553-46184690	ENSG00000258616
30	lnc-FANCM-8	chr14:45759209-45759392	NONHSAT036653
31	lnc-MIS18BP1-1	chr14:46184553-46185155	ENSG00000258616
32	lnc-FANCM-4	chr14:46037729-46038272	ENSG00000258845
33	lnc-MIS18BP1-1	chr14:46184553-46184894	ENSG00000258616
34	lnc-MIS18BP1-1	chr14:46183487-46183634	ENSG00000258616
35	lnc-MIS18BP1-1	chr14:46175453-46175705	ENSG00000258616
36	lnc-MIS18BP1-1	chr14:46181102-46181156	ENSG00000258616
37	lnc-FKBP3-4	chr14:45673040-45673415	NONHSAT036646
38	lnc-MIS18BP1-1	chr14:46177039-46177101	ENSG00000258616

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
ENSG00000258616	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
ENSG00000258616	CpG island
MIS18BP1	CpG island
ENSG00000257900	CpG island
ENSG00000258746	CpG island
ENSG00000258845	CpG island
FANCM	CpG island
ENSG00000258700	chromatin interactions
ENSG00000198718	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000145868	chromatin interactions
ENSG00000249163	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000258949	chromatin interactions
ENSG00000100442	chromatin interactions
ENSG00000176476	chromatin interactions
ENSG00000187790	chromatin interactions
ENSG00000179454	chromatin interactions
ENSG00000258633	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000247199	chromatin interactions
ENSG00000129534	chromatin interactions
ENSG00000179476	chromatin interactions
ENSG00000266401	chromatin interactions
ENSG00000207422	chromatin interactions
ENSG00000199739	chromatin interactions
ENSG00000258616	chromatin interactions
ENSG00000185246	chromatin interactions
IGF2BP3	miRNA target sites
CNOT6L	miRNA target sites

Extended variants
information (count: 11355 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:11355 , 50 per page) page: 1 2 3 4 5 6 7 ... 228

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183564463	chr14:45604440-45604441	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs8009193	chr14:45604461-45604462	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs556948181	chr14:45604505-45604506	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs541664947	chr14:45604531-45604532	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs187079007	chr14:45604565-45604566	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs191837578	chr14:45604592-45604593	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs533552519	chr14:45604715-45604716	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs373666434	chr14:45604752-45604753	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs551218735	chr14:45604837-45604838	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs563396369	chr14:45604847-45604848	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs149907045	chr14:45604852-45604853	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs375281012	chr14:45604923-45604924	Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs183901280	chr14:45605020-45605021	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs188340259	chr14:45605022-45605023	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs534577572	chr14:45605036-45605037	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs546473892	chr14:45605073-45605074	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs115509039	chr14:45605108-45605109	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs538823015	chr14:45605125-45605126	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs558010212	chr14:45605128-45605129	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs576439897	chr14:45605133-45605134	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs537050294	chr14:45605134-45605135	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs553220819	chr14:45605135-45605136	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs368178995	chr14:45605147-45605148	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs371598024	chr14:45605148-45605149	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs555769036	chr14:45605177-45605178	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs200344785	chr14:45605186-45605187	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs541782530	chr14:45605198-45605199	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs199498112	chr14:45605199-45605200	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs201456274	chr14:45605204-45605205	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs113550718	chr14:45605211-45605212	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs376019854	chr14:45605218-45605219	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs202182765	chr14:45605230-45605231	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs140744346	chr14:45605245-45605246	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs374315790	chr14:45605249-45605250	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs145745979	chr14:45605264-45605265	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs146609069	chr14:45605287-45605288	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs201383385	chr14:45605290-45605291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs199699785	chr14:45605293-45605294	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs563248675	chr14:45605297-45605298	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs377031191	chr14:45605302-45605303	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs373268822	chr14:45605322-45605323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs112641528	chr14:45605327-45605328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs530581452	chr14:45605347-45605348	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs548726090	chr14:45605356-45605357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs147559750	chr14:45605393-45605394	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs143507858	chr14:45605396-45605397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs148017562	chr14:45605397-45605398	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs142007602	chr14:45605405-45605406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs200717151	chr14:45605413-45605414	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs111252426	chr14:45605453-45605454	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3357 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45605400	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr14:45602000-45606600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:45602000-45607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:45602000-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:45602200-45605600	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr14:45602200-45606000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:45602200-45606000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:45602200-45606200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:45602200-45606400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:45602200-45607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:45602200-45607600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:45602200-45607600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr14:45602200-45608000	Active TSS	K562	blood
16	chr14:45602400-45605200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:45602400-45606000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:45602400-45606400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:45602400-45606600	Active TSS	Hela-S3	cervix
20	chr14:45602400-45606800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:45602600-45605200	Active TSS	Stomach Smooth Muscle	stomach
22	chr14:45602600-45605400	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:45602600-45605400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:45602600-45605400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:45602600-45605600	Active TSS	Brain Angular Gyrus	brain
26	chr14:45602600-45605600	Active TSS	Brain Anterior Caudate	brain
27	chr14:45602600-45605600	Active TSS	Colon Smooth Muscle	Colon
28	chr14:45602600-45605600	Active TSS	Psoas Muscle	Psoas
29	chr14:45602600-45606000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:45602600-45606200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:45602600-45606200	Active TSS	Right Atrium	heart
32	chr14:45602600-45606400	Active TSS	Right Ventricle	heart
33	chr14:45602600-45606400	Active TSS	HSMMtube	muscle
34	chr14:45602600-45606600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:45602600-45606600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr14:45602600-45606600	Active TSS	Fetal Kidney	kidney
37	chr14:45602600-45606600	Active TSS	HSMM	muscle
38	chr14:45602600-45606800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr14:45602600-45606800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:45602600-45606800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:45602600-45607000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr14:45602600-45607400	Active TSS	NHLF	lung
43	chr14:45602800-45604600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:45602800-45605400	Active TSS	Duodenum Mucosa	Duodenum
45	chr14:45602800-45605400	Active TSS	Placenta	Placenta
46	chr14:45602800-45605600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:45602800-45605600	Active TSS	Brain Hippocampus Middle	brain
48	chr14:45602800-45605600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:45602800-45605600	Active TSS	Brain Substantia Nigra	brain
50	chr14:45602800-45605600	Active TSS	Fetal Brain Male	brain

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