Variant report

Variant	esv3527777
Chromosome Location	chr14:32669175-32761850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2286)
CpG islands
(count:857)
Chromatin interactive
region (count:64)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2286 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:32747305-32747575	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:32672031-32672775	K562	blood:	n/a	n/a
3	ARID3A	chr14:32694417-32694578	K562	blood:	n/a	chr14:32694436-32694452 chr14:32694435-32694451
4	ARID3A	chr14:32690131-32690331	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:32694227-32694541	HepG2	liver:	n/a	chr14:32694436-32694452 chr14:32694435-32694451
6	ARID3A	chr14:32721291-32721642	HepG2	liver:	n/a	chr14:32721574-32721590
7	ARID3A	chr14:32728811-32729269	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:32670008-32673683	HepG2	liver:	n/a	chr14:32671605-32671621
9	ATF1	chr14:32728882-32729227	K562	blood:	n/a	n/a
10	ATF1	chr14:32672124-32672655	K562	blood:	n/a	n/a
11	ATF2	chr14:32672254-32672688	GM12878	blood:	n/a	n/a
12	ATF2	chr14:32728492-32729284	GM12878	blood:	n/a	n/a
13	ATF2	chr14:32728594-32729315	GM12878	blood:	n/a	n/a
14	ATF2	chr14:32675131-32675651	GM12878	blood:	n/a	n/a
15	ATF2	chr14:32675146-32675584	GM12878	blood:	n/a	n/a
16	ATF3	chr14:32694292-32694475	K562	blood:	n/a	n/a
17	ATF3	chr14:32670995-32671591	A549	lung:	n/a	n/a
18	ATF3	chr14:32671998-32672717	K562	blood:	n/a	n/a
19	ATF3	chr14:32670988-32671550	K562	blood:	n/a	n/a
20	ATF3	chr14:32694218-32694573	K562	blood:	n/a	n/a
21	ATF3	chr14:32671952-32672836	A549	lung:	n/a	n/a
22	ATF3	chr14:32670281-32671599	HepG2	liver:	n/a	n/a
23	ATF3	chr14:32670668-32671643	A549	lung:	n/a	n/a
24	ATF3	chr14:32728847-32729205	K562	blood:	n/a	n/a
25	ATF3	chr14:32671791-32672967	A549	lung:	n/a	n/a
26	BACH1	chr14:32671356-32671383	K562	blood:	n/a	n/a
27	BACH1	chr14:32670876-32671102	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr14:32673211-32673319	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr14:32672500-32672798	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr14:32694402-32694433	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr14:32728917-32729152	H1-hESC	embryonic stem cell:	n/a	chr14:32729038-32729052
32	BACH1	chr14:32694327-32694425	K562	blood:	n/a	chr14:32694385-32694399
33	BATF	chr14:32675146-32675585	GM12878	blood:	n/a	chr14:32675403-32675413 chr14:32675399-32675409
34	BATF	chr14:32675131-32675582	GM12878	blood:	n/a	chr14:32675403-32675413 chr14:32675399-32675409
35	BATF	chr14:32728558-32729160	GM12878	blood:	n/a	chr14:32729042-32729052
36	BATF	chr14:32728582-32729224	GM12878	blood:	n/a	chr14:32729042-32729052
37	BCL11A	chr14:32728557-32729299	GM12878	blood:	n/a	chr14:32729040-32729049 chr14:32729041-32729050
38	BCL11A	chr14:32669630-32669939	GM12878	blood:	n/a	n/a
39	BCL11A	chr14:32728882-32729184	GM12878	blood:	n/a	chr14:32729040-32729049 chr14:32729041-32729050
40	BCL11A	chr14:32669710-32669932	GM12878	blood:	n/a	n/a
41	BCL11A	chr14:32672116-32672396	GM12878	blood:	n/a	n/a
42	BCL11A	chr14:32675132-32675565	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
43	BCL11A	chr14:32675077-32675615	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
44	BCL3	chr14:32672031-32672788	A549	lung:	n/a	n/a
45	BCLAF1	chr14:32669546-32670099	GM12878	blood:	n/a	n/a
46	BCLAF1	chr14:32728842-32729317	GM12878	blood:	n/a	chr14:32729040-32729049 chr14:32729041-32729050
47	BCLAF1	chr14:32728890-32729256	GM12878	blood:	n/a	chr14:32729040-32729049 chr14:32729041-32729050
48	BCLAF1	chr14:32671973-32672725	GM12878	blood:	n/a	n/a
49	BCLAF1	chr14:32675074-32675555	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410
50	BCLAF1	chr14:32675104-32675562	GM12878	blood:	n/a	chr14:32675402-32675411 chr14:32675401-32675410

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:32670315-32670365	PFSK-1	brain:	n/a
2	chr14:32728466-32728516	Jurkat	blood:	n/a
3	chr14:32728466-32728516	HRE	kidney:	n/a
4	chr14:32670315-32670365	PFSK-1	brain:	n/a
5	chr14:32728466-32728516	Jurkat	blood:	n/a
6	chr14:32728466-32728516	HRE	kidney:	n/a
7	chr14:32673368-32673418	HCT-116	colon:	n/a
8	chr14:32672656-32672706	HL-60	blood:	n/a
9	chr14:32672705-32672755	HEK293	kidney:	embryo
10	chr14:32670418-32670468	HEEpiC	esophagus:	n/a
11	chr14:32672544-32672594	AG04449	skin:	fetal
12	chr14:32671389-32671439	RPTEC	kidney:	n/a
13	chr14:32671389-32671439	HNPCEpiC	eye:	n/a
14	chr14:32672705-32672755	AG09309	skin:	n/a
15	chr14:32672656-32672706	NT2-D1	testis:	n/a
16	chr14:32672544-32672594	H1-hESC	embryonic stem cell:	embryo
17	chr14:32676804-32676854	HEK293	kidney:	embryo
18	chr14:32670315-32670365	HCT-116	colon:	n/a
19	chr14:32670315-32670365	HEEpiC	esophagus:	n/a
20	chr14:32671389-32671439	Hepatocyte	liver:	n/a
21	chr14:32672544-32672594	IMR90	lung:	fetal
22	chr14:32670656-32670706	CMK	blood:	n/a
23	chr14:32671021-32671071	ovcar-3	ovarian:	n/a
24	chr14:32671389-32671439	H1-hESC	embryonic stem cell:	embryo
25	chr14:32672656-32672706	MCF10A-Er-Src	breast:	n/a
26	chr14:32672656-32672706	Hela-S3	cervix:	n/a
27	chr14:32670315-32670365	Hepatocyte	liver:	n/a
28	chr14:32670418-32670468	LNCaP	prostate:	n/a
29	chr14:32671021-32671071	NHDF-neo	bronchial:	n/a
30	chr14:32728466-32728516	ProgFib	skin:	n/a
31	chr14:32671479-32671529	HCT-116	colon:	n/a
32	chr14:32670611-32670661	NHBE	bronchial:	n/a
33	chr14:32670315-32670365	MCF-7	breast:	n/a
34	chr14:32671021-32671071	Hepatocyte	liver:	n/a
35	chr14:32670656-32670706	HMEC	breast:	n/a
36	chr14:32672656-32672706	AG04450	lung:	fetal
37	chr14:32672656-32672706	CMK	blood:	n/a
38	chr14:32672656-32672706	NB4	blood:	n/a
39	chr14:32670315-32670365	GM12878	blood:	n/a
40	chr14:32672544-32672594	HepG2	liver:	n/a
41	chr14:32676804-32676854	RPTEC	kidney:	n/a
42	chr14:32670611-32670661	HepG2	liver:	n/a
43	chr14:32728466-32728516	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:32672656-32672706	NH-A	brain:	n/a
45	chr14:32671882-32671932	NHDF-neo	bronchial:	n/a
46	chr14:32671882-32671932	SKMC	muscle:	n/a
47	chr14:32671479-32671529	HAEpiC	amniotic membrane:	n/a
48	chr14:32670611-32670661	SK-N-MC	brain:	n/a
49	chr14:32671882-32671932	AoSMC	blood vessel:	n/a
50	chr14:32672705-32672755	NHDF-neo	bronchial:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:32691479..32693904-chr14:32695641..32697157,2	MCF-7	breast:
2	chr14:32673261..32674882-chr14:32699450..32701140,2	MCF-7	breast:
3	chr14:32691479..32693904-chr14:32695641..32697157,2	MCF-7	breast:
4	chr14:32676864..32680805-chr14:32686575..32689664,3	MCF-7	breast:
5	chr14:32723026..32725175-chr14:32851275..32852681,8	MCF-7	breast:
6	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
7	chr14:32674899..32676937-chr14:32680136..32682555,2	K562	blood:
8	chr14:32542579..32543458-chr14:32720482..32722172,6	MCF-7	breast:
9	chr14:32676864..32680805-chr14:32686575..32689664,3	MCF-7	breast:
10	chr14:32720658..32723115-chr14:32723813..32725711,2	K562	blood:
11	chr14:32693276..32694174-chr8:133368373..133369009,2	MCF-7	breast:
12	chr14:32413109..32414791-chr14:32721834..32724143,2	MCF-7	breast:
13	chr14:32544241..32545923-chr14:32709025..32711860,2	MCF-7	breast:
14	chr14:32714513..32717324-chr14:32719645..32722462,2	K562	blood:
15	chr14:32748258..32751049-chr14:32978793..32981637,2	MCF-7	breast:
16	chr14:32672725..32675021-chr14:32675763..32678202,4	K562	blood:
17	chr14:32665295..32667033-chr14:32668377..32670750,3	K562	blood:
18	chr14:32542502..32543704-chr14:32720937..32721764,5	MCF-7	breast:
19	chr14:32698519..32700470-chr14:32701311..32703904,2	K562	blood:
20	chr14:32727633..32729387-chr14:32733655..32736313,2	K562	blood:
21	chr14:32543574..32546453-chr14:32680467..32683177,2	K562	blood:
22	chr14:32687135..32688920-chr14:32690921..32692554,2	K562	blood:
23	chr14:32544361..32548285-chr14:32726893..32730492,3	MCF-7	breast:
24	chr14:32673261..32674882-chr14:32699450..32701140,2	MCF-7	breast:
25	chr14:32672725..32675021-chr14:32675763..32678202,4	K562	blood:
26	chr14:32672713..32675385-chr14:32675596..32677310,2	MCF-7	breast:
27	chr14:32545977..32548666-chr14:32716017..32718304,2	MCF-7	breast:
28	chr14:32542534..32543435-chr14:32713337..32714270,5	MCF-7	breast:
29	chr14:31925457..31927952-chr14:32721407..32723142,2	MCF-7	breast:
30	chr14:32542263..32548476-chr14:32718858..32724854,7	MCF-7	breast:
31	chr14:32714513..32717324-chr14:32719645..32722462,2	K562	blood:
32	chr14:32547217..32549029-chr14:32699627..32701344,2	MCF-7	breast:
33	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:
34	chr14:32674899..32676937-chr14:32680136..32682555,2	K562	blood:
35	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
36	chr14:32404299..32405896-chr14:32722271..32724714,2	MCF-7	breast:
37	chr14:32678456..32680840-chr9:93224196..93226746,2	MCF-7	breast:
38	chr14:32394989..32395944-chr14:32721409..32721963,3	K562	blood:
39	chr14:32720658..32723115-chr14:32723813..32725711,2	K562	blood:
40	chr14:32542547..32543455-chr14:32714700..32715234,2	MCF-7	breast:
41	chr14:32545768..32548128-chr14:32672317..32675290,2	MCF-7	breast:
42	chr14:32395062..32396238-chr14:32721028..32721952,3	MCF-7	breast:
43	chr14:32403221..32404535-chr14:32721037..32721949,6	MCF-7	breast:
44	chr14:32146895..32147481-chr14:32713372..32714254,2	MCF-7	breast:
45	chr14:32671379..32673455-chr14:32677687..32680433,2	MCF-7	breast:
46	chr14:32546346..32548378-chr14:32690479..32693406,2	K562	blood:
47	chr14:32727633..32729387-chr14:32733655..32736313,2	K562	blood:
48	chr14:32723750..32724528-chr14:32851720..32852545,3	MCF-7	breast:
49	chr14:32698519..32700470-chr14:32701311..32703904,2	K562	blood:
50	chr14:32721143..32722141-chr14:32851679..32852591,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-5	chr14:32669704-32670732	XLOC_010989
2	lnc-C14orf126-10	chr14:32710730-32712299	NONHSAT036302
3	lnc-C14orf126-5	chr14:32671112-32671152	XLOC_010989

No data

Variant related genes	Relation type
RNU6-8	TF binding region
ENSG00000259086	TF binding region
ENSG00000258619	TF binding region
RNU6-7	TF binding region
RNU6-8	CpG island
ENSG00000259086	CpG island
ENSG00000258619	CpG island
RNU6-7	CpG island
ENSG00000129480	chromatin interactions
ENSG00000258655	chromatin interactions
ENSG00000100852	chromatin interactions
ENSG00000258474	chromatin interactions
ENSG00000203546	chromatin interactions
ENSG00000202337	chromatin interactions

Extended variants
information (count: 3553 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3553 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146417378	chr14:32669287-32669288	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140942237	chr14:32669299-32669300	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564658592	chr14:32669312-32669313	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs114139286	chr14:32669370-32669371	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs146740502	chr14:32669388-32669389	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs543131665	chr14:32669390-32669391	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113674187	chr14:32669397-32669398	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532134696	chr14:32669475-32669476	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs150378871	chr14:32669540-32669541	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565980115	chr14:32669577-32669578	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs529915331	chr14:32669603-32669604	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548379856	chr14:32669683-32669684	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs12587841	chr14:32669701-32669702	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569735703	chr14:32669791-32669792	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs34753884	chr14:32669809-32669810	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs538362727	chr14:32669821-32669822	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs556234291	chr14:32669960-32669961	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs571368092	chr14:32669973-32669974	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs7149020	chr14:32669994-32669995	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553722572	chr14:32670128-32670129	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs190044309	chr14:32670141-32670142	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs138069174	chr14:32670145-32670146	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs555174934	chr14:32670155-32670156	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs576560107	chr14:32670204-32670205	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs543542930	chr14:32670247-32670248	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs564979933	chr14:32670248-32670249	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs532196017	chr14:32670262-32670263	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs114615300	chr14:32670280-32670281	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs559356924	chr14:32670302-32670303	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs80027876	chr14:32670316-32670317	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs548164654	chr14:32670352-32670353	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs112585832	chr14:32670410-32670411	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs369446183	chr14:32670413-32670414	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs530629314	chr14:32670443-32670444	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs551906740	chr14:32670453-32670454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs571430621	chr14:32670485-32670486	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs17098551	chr14:32670500-32670501	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538610807	chr14:32670517-32670518	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs565916944	chr14:32670528-32670529	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs28669235	chr14:32670535-32670536	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs547102687	chr14:32670538-32670539	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs1952486	chr14:32670544-32670545	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs554957480	chr14:32670555-32670556	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs1952485	chr14:32670565-32670566	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs146422039	chr14:32670583-32670584	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs537643404	chr14:32670624-32670625	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs559164190	chr14:32670715-32670716	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs375162918	chr14:32670734-32670735	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs143151980	chr14:32670747-32670748	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs115548012	chr14:32670754-32670755	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1192 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32667600-32670000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:32667600-32670000	Weak transcription	NHEK	skin
3	chr14:32668000-32669200	Weak transcription	GM12878-XiMat	blood
4	chr14:32668600-32669800	Weak transcription	Fetal Intestine Small	intestine
5	chr14:32669000-32669200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:32669000-32669600	Enhancers	Primary B cells from cord blood	blood
7	chr14:32669000-32669800	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:32669200-32669400	Enhancers	Primary hematopoietic stem cells	blood
9	chr14:32669200-32669400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:32669200-32669400	Enhancers	GM12878-XiMat	blood
11	chr14:32669200-32669600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:32669200-32669800	Enhancers	Liver	Liver
13	chr14:32669200-32669800	Enhancers	Hela-S3	cervix
14	chr14:32669200-32669800	Flanking Active TSS	HepG2	liver
15	chr14:32669200-32669800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr14:32669200-32670000	Enhancers	Adipose Nuclei	Adipose
17	chr14:32669200-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:32669400-32669600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:32669400-32669800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:32669400-32669800	Enhancers	Duodenum Mucosa	Duodenum
21	chr14:32669400-32670000	Flanking Active TSS	GM12878-XiMat	blood
22	chr14:32669400-32671600	Active TSS	A549	lung
23	chr14:32669400-32672400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr14:32669600-32669800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:32669600-32669800	Enhancers	Primary T cells from cord blood	blood
27	chr14:32669600-32669800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:32669600-32669800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:32669600-32669800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:32669600-32669800	Enhancers	Brain Hippocampus Middle	brain
31	chr14:32669600-32670000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:32669600-32670000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:32669600-32670200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr14:32669600-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:32669800-32670000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr14:32669800-32670000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:32669800-32670000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr14:32669800-32670000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:32669800-32670000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr14:32669800-32670000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:32669800-32670000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:32669800-32670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:32669800-32670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:32669800-32670000	Flanking Active TSS	Liver	Liver
47	chr14:32669800-32670000	Enhancers	Fetal Intestine Small	intestine
48	chr14:32669800-32670000	Active TSS	Fetal Lung	lung
49	chr14:32669800-32670000	Enhancers	Placenta	Placenta
50	chr14:32669800-32670000	Enhancers	Rectal Mucosa Donor 31	rectum

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