Variant report

Variant	esv3428481
Chromosome Location	chr14:39900201-39903099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:875)
CpG islands
(count:855)
Chromatin interactive
region (count:23)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:39901350-39903055	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:39900839-39901039	HepG2	liver:	n/a	n/a
3	ATF1	chr14:39901399-39901837	K562	blood:	n/a	n/a
4	ATF2	chr14:39901815-39902103	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:39901261-39901702	GM12878	blood:	n/a	n/a
6	ATF2	chr14:39901178-39901761	GM12878	blood:	n/a	n/a
7	ATF2	chr14:39901789-39902356	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr14:39901799-39902418	GM12878	blood:	n/a	n/a
9	ATF3	chr14:39901394-39902059	HepG2	liver:	n/a	n/a
10	ATF3	chr14:39901657-39901763	GM12878	blood:	n/a	n/a
11	ATF3	chr14:39901587-39901795	K562	blood:	n/a	n/a
12	ATF3	chr14:39901477-39901904	GM12878	blood:	n/a	n/a
13	BACH1	chr14:39902009-39902526	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr14:39900402-39900414	K562	blood:	n/a	n/a
15	BCL3	chr14:39901431-39902290	A549	lung:	n/a	n/a
16	BCLAF1	chr14:39901126-39901710	GM12878	blood:	n/a	n/a
17	BCLAF1	chr14:39901737-39902584	GM12878	blood:	n/a	n/a
18	BCLAF1	chr14:39901795-39902320	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:39901226-39902469	GM12878	blood:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
20	BHLHE40	chr14:39900412-39900536	K562	blood:	n/a	n/a
21	BHLHE40	chr14:39900594-39902433	HepG2	liver:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
22	BHLHE40	chr14:39900684-39900867	GM12878	blood:	n/a	n/a
23	BHLHE40	chr14:39901357-39902091	A549	lung:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
24	BHLHE40	chr14:39900795-39902541	K562	blood:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
25	BRCA1	chr14:39900457-39900624	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr14:39901322-39902981	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr14:39901370-39902004	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr14:39901283-39902104	GM12878	blood:	n/a	n/a
29	BRCA1	chr14:39901331-39902362	HepG2	liver:	n/a	n/a
30	BRCA1	chr14:39900904-39901102	HepG2	liver:	n/a	n/a
31	CCNT2	chr14:39900700-39902326	K562	blood:	n/a	n/a
32	CEBPB	chr14:39901070-39902299	HepG2	liver:	n/a	n/a
33	CEBPB	chr14:39901393-39902704	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr14:39901804-39902045	HepG2	liver:	n/a	n/a
35	CEBPB	chr14:39901407-39902626	HepG2	liver:	n/a	n/a
36	CEBPD	chr14:39901065-39902350	HepG2	liver:	n/a	n/a
37	CEBPD	chr14:39900575-39901053	HepG2	liver:	n/a	n/a
38	CEBPD	chr14:39901801-39902431	HepG2	liver:	n/a	n/a
39	CHD1	chr14:39900227-39902684	GM12878	blood:	n/a	n/a
40	CHD1	chr14:39900579-39900862	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr14:39900053-39903161	IMR90	lung:	n/a	n/a
42	CHD1	chr14:39902278-39902561	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr14:39901276-39902078	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr14:39901341-39902380	GM12878	blood:	n/a	n/a
45	CHD2	chr14:39901379-39901656	K562	blood:	n/a	n/a
46	CHD2	chr14:39901423-39902350	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr14:39900819-39901005	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr14:39900716-39902370	HepG2	liver:	n/a	n/a
49	CHD2	chr14:39900496-39900994	GM12878	blood:	n/a	n/a
50	CHD2	chr14:39900285-39902400	Hela-S3	cervix:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39901331-39901381	ECC-1	luminal epithelium:	n/a
2	chr14:39901331-39901381	ECC-1	luminal epithelium:	n/a
3	chr14:39900384-39900434	HCPEpiC	choroid plexus:	n/a
4	chr14:39902004-39902054	ProgFib	skin:	n/a
5	chr14:39900384-39900434	ovcar-3	ovarian:	n/a
6	chr14:39901950-39902000	AG09309	skin:	n/a
7	chr14:39902973-39903023	HCT-116	colon:	n/a
8	chr14:39901328-39901378	HRPEpiC	eye:	n/a
9	chr14:39900724-39900774	HCM	heart:	n/a
10	chr14:39901815-39901865	HCPEpiC	choroid plexus:	n/a
11	chr14:39901518-39901568	Caco-2	colon:	n/a
12	chr14:39901846-39901896	AG04450	lung:	fetal
13	chr14:39901508-39901558	GM12892	blood:	n/a
14	chr14:39901328-39901378	K562	blood:	n/a
15	chr14:39901331-39901381	IMR90	lung:	fetal
16	chr14:39900384-39900434	GM19239	blood:	n/a
17	chr14:39901757-39901807	HCT-116	colon:	n/a
18	chr14:39902973-39903023	GM12891	blood:	n/a
19	chr14:39901508-39901558	SK-N-SH	brain:	n/a
20	chr14:39900677-39900727	NT2-D1	testis:	n/a
21	chr14:39902973-39903023	HAEpiC	amniotic membrane:	n/a
22	chr14:39901508-39901558	HEK293	kidney:	embryo
23	chr14:39902004-39902054	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:39901815-39901865	AG09319	gingival:	n/a
25	chr14:39900677-39900727	HNPCEpiC	eye:	n/a
26	chr14:39901815-39901865	AG04449	skin:	fetal
27	chr14:39901518-39901568	SAEC	small airway:	n/a
28	chr14:39901518-39901568	PANC-1	pancreas:	n/a
29	chr14:39900724-39900774	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:39902973-39903023	HPAEpiC	pulmonary alveolar:	n/a
31	chr14:39902973-39903023	NHDF-neo	bronchial:	n/a
32	chr14:39901331-39901381	HIPEpiC	eye:	n/a
33	chr14:39901815-39901865	AoSMC	blood vessel:	n/a
34	chr14:39901815-39901865	HRE	kidney:	n/a
35	chr14:39900724-39900774	PFSK-1	brain:	n/a
36	chr14:39900724-39900774	Jurkat	blood:	n/a
37	chr14:39901331-39901381	CMK	blood:	n/a
38	chr14:39901757-39901807	ovcar-3	ovarian:	n/a
39	chr14:39901846-39901896	NHBE	bronchial:	n/a
40	chr14:39901331-39901381	HRE	kidney:	n/a
41	chr14:39901950-39902000	GM19239	blood:	n/a
42	chr14:39902004-39902054	SK-N-SH	brain:	n/a
43	chr14:39901328-39901378	HAEpiC	amniotic membrane:	n/a
44	chr14:39901508-39901558	MCF-7	breast:	n/a
45	chr14:39900724-39900774	GM12892	blood:	n/a
46	chr14:39901950-39902000	HEK293	kidney:	embryo
47	chr14:39901331-39901381	ovcar-3	ovarian:	n/a
48	chr14:39901757-39901807	AG09309	skin:	n/a
49	chr14:39902973-39903023	MCF-7	breast:	n/a
50	chr14:39901815-39901865	Jurkat	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
2	chr14:39901683..39902768-chr5:133339963..133341128,3	Hela-S3	cervix:
3	chr14:39901137..39902070-chr7:56118572..56119330,2	Hela-S3	cervix:
4	chr14:39900771..39901524-chr9:130565165..130566143,2	Hela-S3	cervix:
5	chr12:6643877..6644638-chr14:39901829..39902699,2	Hela-S3	cervix:
6	chr14:39901703..39902317-chr9:139622158..139622665,2	Hela-S3	cervix:
7	chr14:39734882..39737237-chr14:39899749..39901875,2	MCF-7	breast:
8	chr14:39901386..39902151-chr5:39074180..39074842,2	Hela-S3	cervix:
9	chr14:39903003..39906043-chr14:39907787..39910140,3	MCF-7	breast:
10	chr14:39901189..39901823-chr9:5629126..5629693,2	Hela-S3	cervix:
11	chr1:47082038..47082599-chr14:39900004..39900650,2	Hela-S3	cervix:
12	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
13	chr14:39901734..39902665-chr6:43738259..43739159,2	Hela-S3	cervix:
14	chr14:39901309..39901883-chr5:176924137..176924694,2	Hela-S3	cervix:
15	chr14:39901662..39902484-chr5:33440251..33441215,2	Hela-S3	cervix:
16	chr14:39902105..39903035-chr20:442777..443759,2	Hela-S3	cervix:
17	chr14:39901783..39902523-chr20:60640746..60641582,2	Hela-S3	cervix:
18	chr14:39900267..39901029-chr20:30193302..30193910,2	Hela-S3	cervix:
19	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:
20	chr14:39901528..39902236-chr22:43010988..43011641,2	HCT-116	colon:
21	chr13:111367234..111367866-chr14:39901703..39902336,2	Hela-S3	cervix:
22	chr14:39644686..39646338-chr14:39899658..39902040,2	K562	blood:
23	chr14:39649512..39652193-chr14:39897469..39900946,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-1	chr14:39901862-39901879	XLOC_010811
2	lnc-CTAGE5-1	chr14:39901834-39901879	XLOC_010811
3	lnc-CTAGE5-1	chr14:39901804-39901879	NONHSAT036536
4	lnc-CTAGE5-1	chr14:39902914-39902933	XLOC_010811
5	lnc-CTAGE5-1	chr14:39902914-39902933	XLOC_010811
6	lnc-CTAGE5-1	chr14:39901804-39901879	NONHSAT036535

No data

Variant related genes	Relation type
FBXO33	TF binding region
FBXO33	CpG island
ENSG00000142961	chromatin interactions
ENSG00000259083	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000125875	chromatin interactions
ENSG00000146731	chromatin interactions
ENSG00000150527	chromatin interactions
ENSG00000164327	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000079277	chromatin interactions
ENSG00000100934	chromatin interactions
ENSG00000196923	chromatin interactions
ENSG00000258940	chromatin interactions
ENSG00000213585	chromatin interactions
ENSG00000271737	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000258651	chromatin interactions
ENSG00000249572	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000258941	chromatin interactions
ENSG00000272114	chromatin interactions
ENSG00000146733	chromatin interactions
ENSG00000107036	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000182400	chromatin interactions
CASP7	miRNA target sites

Extended variants
information (count: 123 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565559851	chr14:39900207-39900208	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs534474140	chr14:39900208-39900209	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs570153973	chr14:39900232-39900233	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs554450027	chr14:39900275-39900276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs114315217	chr14:39900295-39900296	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs552914173	chr14:39900310-39900311	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs536941286	chr14:39900433-39900434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs528074822	chr14:39900447-39900448	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs548100342	chr14:39900453-39900454	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs545906574	chr14:39900482-39900483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs145484214	chr14:39900537-39900538	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs572688089	chr14:39900577-39900578	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs552346600	chr14:39900585-39900586	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs541592244	chr14:39900621-39900622	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs8006123	chr14:39900672-39900673	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530458416	chr14:39900683-39900684	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs146515711	chr14:39900713-39900714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs367708603	chr14:39900718-39900719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs371314854	chr14:39900719-39900720	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs149122639	chr14:39900721-39900722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs368607185	chr14:39900727-39900728	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372738135	chr14:39900743-39900744	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs532374326	chr14:39900765-39900766	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs374930407	chr14:39900770-39900771	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs553415495	chr14:39900806-39900807	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs144063825	chr14:39900816-39900817	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs552654687	chr14:39900820-39900821	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs150275164	chr14:39900835-39900836	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs45453296	chr14:39900836-39900837	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs201660398	chr14:39900846-39900847	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs116458322	chr14:39900857-39900858	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs377484603	chr14:39900875-39900876	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs567902786	chr14:39900893-39900894	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs537382007	chr14:39900901-39900902	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs376634608	chr14:39900908-39900909	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs200322477	chr14:39900911-39900912	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs77726617	chr14:39900913-39900914	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs149398213	chr14:39900914-39900915	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs376258296	chr14:39900923-39900924	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs370631930	chr14:39900929-39900930	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs548769964	chr14:39900964-39900965	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs539024932	chr14:39900978-39900979	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs144811155	chr14:39901011-39901012	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs7147177	chr14:39901012-39901013	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573023095	chr14:39901034-39901035	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs200348294	chr14:39901046-39901047	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs199708122	chr14:39901048-39901049	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs555236804	chr14:39901067-39901068	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs575062711	chr14:39901069-39901070	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs200294421	chr14:39901076-39901077	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39897800-39903000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr14:39898000-39900400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:39898200-39900600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:39898400-39900400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr14:39898400-39900600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr14:39898600-39900800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr14:39898800-39900400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr14:39898800-39900400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr14:39898800-39900400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr14:39898800-39900400	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr14:39898800-39900400	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr14:39898800-39900600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:39898800-39900600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr14:39898800-39900600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr14:39898800-39900600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr14:39898800-39900600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr14:39898800-39900600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr14:39898800-39900600	Flanking Active TSS	Dnd41	blood
19	chr14:39898800-39900800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr14:39898800-39900800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr14:39898800-39900800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr14:39898800-39901200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:39899000-39900400	Enhancers	Spleen	Spleen
24	chr14:39899000-39900600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:39899000-39900800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr14:39899000-39900800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:39899000-39903000	Active TSS	Psoas Muscle	Psoas
28	chr14:39899000-39903000	Active TSS	Right Atrium	heart
29	chr14:39899000-39903200	Active TSS	Aorta	Aorta
30	chr14:39899000-39903200	Active TSS	Ovary	ovary
31	chr14:39899200-39900400	Flanking Active TSS	Fetal Lung	lung
32	chr14:39899200-39900600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:39899200-39900600	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr14:39899200-39900600	Flanking Active TSS	HMEC	breast
35	chr14:39899200-39900600	Flanking Active TSS	HUVEC	blood vessel
36	chr14:39899200-39903000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:39899200-39903200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:39899200-39903200	Active TSS	NHLF	lung
39	chr14:39899400-39902600	Active TSS	Brain Hippocampus Middle	brain
40	chr14:39899400-39902600	Active TSS	Fetal Heart	heart
41	chr14:39899400-39902800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:39899400-39902800	Active TSS	Rectal Smooth Muscle	rectum
43	chr14:39899400-39903000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:39899400-39903200	Active TSS	Right Ventricle	heart
45	chr14:39899600-39900400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:39899600-39900400	Flanking Active TSS	NH-A	brain
47	chr14:39899600-39900400	Flanking Active TSS	NHEK	skin
48	chr14:39899600-39900400	Flanking Active TSS	Osteobl	bone
49	chr14:39899600-39900600	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr14:39899600-39900600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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