Variant report

Variant	esv3404983
Chromosome Location	chr14:65878424-65881572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:65879048-65879428	HepG2	liver:	n/a	n/a
2	ATF2	chr14:65878935-65879439	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:65878954-65879590	GM12878	blood:	n/a	n/a
4	ATF2	chr14:65879101-65879487	GM12878	blood:	n/a	n/a
5	ATF2	chr14:65878149-65878731	GM12878	blood:	n/a	n/a
6	ATF3	chr14:65878972-65879545	A549	lung:	n/a	chr14:65879340-65879349
7	ATF3	chr14:65879086-65879534	A549	lung:	n/a	chr14:65879340-65879349
8	BACH1	chr14:65879013-65879315	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr14:65878352-65880086	GM12878	blood:	n/a	chr14:65879708-65879721 chr14:65879384-65879397 chr14:65878599-65878608 chr14:65879763-65879772 chr14:65879279-65879292 chr14:65879586-65879595 chr14:65879766-65879775 chr14:65879587-65879600
10	BCL3	chr14:65878938-65879500	A549	lung:	n/a	chr14:65879384-65879397 chr14:65879279-65879292
11	BCLAF1	chr14:65878372-65879479	GM12878	blood:	n/a	chr14:65879384-65879397 chr14:65878599-65878608 chr14:65879279-65879292
12	BCLAF1	chr14:65878451-65880046	GM12878	blood:	n/a	chr14:65879708-65879721 chr14:65879384-65879397 chr14:65878599-65878608 chr14:65879763-65879772 chr14:65879279-65879292 chr14:65879586-65879595 chr14:65879766-65879775 chr14:65879587-65879600
13	BCLAF1	chr14:65880254-65881026	GM12878	blood:	n/a	chr14:65880264-65880273
14	BHLHE40	chr14:65878495-65878716	K562	blood:	n/a	n/a
15	BHLHE40	chr14:65878424-65879949	GM12878	blood:	n/a	chr14:65879506-65879522 chr14:65879455-65879471
16	BHLHE40	chr14:65880419-65880464	K562	blood:	n/a	n/a
17	BHLHE40	chr14:65879155-65879530	K562	blood:	n/a	chr14:65879506-65879522 chr14:65879455-65879471
18	BHLHE40	chr14:65878942-65879567	HepG2	liver:	n/a	chr14:65879506-65879522 chr14:65879455-65879471
19	BHLHE40	chr14:65879038-65879515	A549	lung:	n/a	chr14:65879455-65879471
20	BRCA1	chr14:65878359-65878532	HepG2	liver:	n/a	n/a
21	BRCA1	chr14:65878973-65879829	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr14:65878571-65878681	GM12878	blood:	n/a	n/a
23	BRCA1	chr14:65879150-65879366	GM12878	blood:	n/a	n/a
24	BRCA1	chr14:65879150-65879791	HepG2	liver:	n/a	n/a
25	BRCA1	chr14:65878961-65879399	H1-hESC	embryonic stem cell:	n/a	n/a
26	CCNT2	chr14:65879008-65880028	K562	blood:	n/a	chr14:65879340-65879349
27	CEBPB	chr14:65878862-65879393	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr14:65880539-65880739	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr14:65879070-65879447	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr14:65878507-65878869	HepG2	liver:	n/a	n/a
31	CHD1	chr14:65878732-65879412	GM12878	blood:	n/a	chr14:65879341-65879351 chr14:65879160-65879170
32	CHD1	chr14:65879023-65879292	H1-hESC	embryonic stem cell:	n/a	chr14:65879160-65879170
33	CHD1	chr14:65879768-65879974	H1-hESC	embryonic stem cell:	n/a	chr14:65879918-65879928
34	CHD1	chr14:65877984-65880997	IMR90	lung:	n/a	chr14:65879341-65879351 chr14:65879708-65879718 chr14:65879918-65879928 chr14:65879160-65879170
35	CHD2	chr14:65880138-65880328	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr14:65879536-65879843	K562	blood:	n/a	chr14:65879708-65879718
37	CHD2	chr14:65878955-65879944	HepG2	liver:	n/a	chr14:65879341-65879351 chr14:65879708-65879718 chr14:65879918-65879928 chr14:65879160-65879170
38	CHD2	chr14:65878344-65879876	H1-hESC	embryonic stem cell:	n/a	chr14:65879341-65879351 chr14:65879708-65879718 chr14:65879160-65879170
39	CHD2	chr14:65878387-65880282	GM12878	blood:	n/a	chr14:65879341-65879351 chr14:65879708-65879718 chr14:65879918-65879928 chr14:65879160-65879170
40	CHD2	chr14:65878406-65878693	HepG2	liver:	n/a	n/a
41	CHD2	chr14:65878389-65878692	K562	blood:	n/a	n/a
42	CHD2	chr14:65878325-65880371	Hela-S3	cervix:	n/a	chr14:65879341-65879351 chr14:65879708-65879718 chr14:65879918-65879928 chr14:65879160-65879170
43	CREB1	chr14:65878291-65878822	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr14:65879586-65879874	A549	lung:	n/a	n/a
45	CREB1	chr14:65878298-65880034	GM12878	blood:	n/a	n/a
46	CREB1	chr14:65878276-65878842	A549	lung:	n/a	n/a
47	CREB1	chr14:65878355-65878622	A549	lung:	n/a	n/a
48	CREB1	chr14:65878939-65879571	A549	lung:	n/a	n/a
49	CREB1	chr14:65878213-65879959	HepG2	liver:	n/a	n/a
50	CTBP2	chr14:65878437-65880458	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65879007-65879057	AG09309	skin:	n/a
2	chr14:65879007-65879057	AG09309	skin:	n/a
3	chr14:65879893-65879943	HRCEpiC	kidney:	n/a
4	chr14:65879893-65879943	PrEC	prostate:	n/a
5	chr14:65879007-65879057	CMK	blood:	n/a
6	chr14:65879396-65879446	ProgFib	skin:	n/a
7	chr14:65878633-65878683	HRPEpiC	eye:	n/a
8	chr14:65879393-65879443	PFSK-1	brain:	n/a
9	chr14:65878633-65878683	NHBE	bronchial:	n/a
10	chr14:65880369-65880419	Hela-S3	cervix:	n/a
11	chr14:65879393-65879443	NH-A	brain:	n/a
12	chr14:65879393-65879443	AG10803	skin:	n/a
13	chr14:65879396-65879446	Caco-2	colon:	n/a
14	chr14:65880369-65880419	H1-hESC	embryonic stem cell:	embryo
15	chr14:65878633-65878683	MCF-7	breast:	n/a
16	chr14:65879007-65879057	H1-hESC	embryonic stem cell:	embryo
17	chr14:65880036-65880086	GM12892	blood:	n/a
18	chr14:65879393-65879443	HRCEpiC	kidney:	n/a
19	chr14:65880036-65880086	HMEC	breast:	n/a
20	chr14:65880036-65880086	AG04450	lung:	fetal
21	chr14:65880036-65880086	HepG2	liver:	n/a
22	chr14:65880369-65880419	PANC-1	pancreas:	n/a
23	chr14:65879007-65879057	Hepatocyte	liver:	n/a
24	chr14:65879007-65879057	GM12878	blood:	n/a
25	chr14:65880369-65880419	Hepatocyte	liver:	n/a
26	chr14:65879007-65879057	SK-N-MC	brain:	n/a
27	chr14:65880369-65880419	K562	blood:	n/a
28	chr14:65879906-65879956	AG09309	skin:	n/a
29	chr14:65878866-65878916	GM12878	blood:	n/a
30	chr14:65880036-65880086	NB4	blood:	n/a
31	chr14:65880036-65880086	CMK	blood:	n/a
32	chr14:65879393-65879443	HCPEpiC	choroid plexus:	n/a
33	chr14:65878866-65878916	PrEC	prostate:	n/a
34	chr14:65879393-65879443	PrEC	prostate:	n/a
35	chr14:65879396-65879446	PANC-1	pancreas:	n/a
36	chr14:65878633-65878683	NT2-D1	testis:	n/a
37	chr14:65879893-65879943	RPTEC	kidney:	n/a
38	chr14:65880036-65880086	PrEC	prostate:	n/a
39	chr14:65880036-65880086	HEK293	kidney:	embryo
40	chr14:65878866-65878916	AG04450	lung:	fetal
41	chr14:65880036-65880086	U87	brain:	n/a
42	chr14:65879396-65879446	BJ	skin:	n/a
43	chr14:65879893-65879943	GM12891	blood:	n/a
44	chr14:65879893-65879943	AoSMC	blood vessel:	n/a
45	chr14:65880036-65880086	HRPEpiC	eye:	n/a
46	chr14:65880036-65880086	HCPEpiC	choroid plexus:	n/a
47	chr14:65879396-65879446	AG09319	gingival:	n/a
48	chr14:65879007-65879057	RPTEC	kidney:	n/a
49	chr14:65878633-65878683	AG09319	gingival:	n/a
50	chr14:65878633-65878683	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65881120..65883411-chr14:65884854..65887991,3	MCF-7	breast:
2	chr14:65881498..65882398-chr14:66291188..66291694,2	K562	blood:
3	chr14:65879206..65879893-chr17:58603152..58603849,2	MCF-7	breast:
4	chr14:65877301..65879579-chr20:36761978..36764479,2	MCF-7	breast:
5	chr14:65881389..65882114-chr14:66425535..66426219,3	MCF-7	breast:
6	chr14:65876592..65878564-chr6:54710365..54711981,2	MCF-7	breast:
7	chr14:65745595..65748280-chr14:65878483..65880878,2	MCF-7	breast:
8	chr14:65688822..65689388-chr14:65878671..65879347,2	MCF-7	breast:
9	chr14:65881391..65882373-chr14:66299222..66299740,2	MCF-7	breast:
10	chr14:65880088..65881939-chr14:66282983..66284508,2	MCF-7	breast:
11	chr14:65879676..65881204-chr14:65933662..65936142,2	MCF-7	breast:
12	chr14:65688460..65689522-chr14:65878564..65879464,3	MCF-7	breast:
13	chr14:65880600..65882625-chr14:65890707..65892397,2	MCF-7	breast:
14	chr14:65799114..65802639-chr14:65877920..65880470,4	MCF-7	breast:
15	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
16	chr14:65769045..65770910-chr14:65878599..65880667,2	MCF-7	breast:
17	chr14:65569137..65571197-chr14:65878383..65880649,2	MCF-7	breast:
18	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
19	chr14:65700230..65702841-chr14:65877569..65880268,3	MCF-7	breast:
20	chr14:65700105..65703075-chr14:65877781..65880441,2	MCF-7	breast:
21	chr14:65877799..65879344-chr20:52823519..52825312,2	MCF-7	breast:
22	chr14:65878879..65879745-chr16:87350756..87351618,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-11	chr14:65877311-65879335	NONHSAT037389

Variant related genes	Relation type
FUT8	TF binding region
FUT8	CpG island
ENSG00000198959	chromatin interactions
ENSG00000266740	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000168143	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000180662	chromatin interactions
ENSG00000258878	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000259078	chromatin interactions
ENSG00000258760	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000125952	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000255002	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370834264	chr14:65878443-65878444	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
2	rs531159112	chr14:65878473-65878474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
3	rs551374829	chr14:65878485-65878486	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs571217449	chr14:65878544-65878545	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
5	rs191030169	chr14:65878565-65878566	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
6	rs577816927	chr14:65878569-65878570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs546771953	chr14:65878578-65878579	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs566772515	chr14:65878602-65878603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs544822790	chr14:65878614-65878615	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs555600599	chr14:65878615-65878616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs569537470	chr14:65878622-65878623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs537824436	chr14:65878642-65878643	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs558149359	chr14:65878669-65878670	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs578017401	chr14:65878742-65878743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs1953416	chr14:65878807-65878808	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs553999657	chr14:65878809-65878810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs34007703	chr14:65878847-65878848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs549241472	chr14:65878851-65878852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs542843643	chr14:65878864-65878865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs150063048	chr14:65878885-65878886	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs371413321	chr14:65878891-65878892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs1953417	chr14:65878909-65878910	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34697868	chr14:65878993-65878994	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs138755557	chr14:65878994-65878995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs34121545	chr14:65878996-65878997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs77660724	chr14:65879003-65879004	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs564925350	chr14:65879087-65879088	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs146649717	chr14:65879102-65879103	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
29	rs547133006	chr14:65879121-65879122	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs181776642	chr14:65879123-65879124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs529400572	chr14:65879172-65879173	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
32	rs549187527	chr14:65879185-65879186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
33	rs569417300	chr14:65879211-65879212	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
34	rs538566132	chr14:65879231-65879232	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs551480429	chr14:65879234-65879235	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
36	rs571654836	chr14:65879254-65879255	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
37	rs140178109	chr14:65879277-65879278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
38	rs571351814	chr14:65879328-65879329	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
39	rs2898820	chr14:65879354-65879355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574201312	chr14:65879466-65879467	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs536416389	chr14:65879498-65879499	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs556355721	chr14:65879534-65879535	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs576238183	chr14:65879550-65879551	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs871784	chr14:65879553-65879554	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs117509929	chr14:65879556-65879557	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs371719798	chr14:65879572-65879573	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs376912572	chr14:65879608-65879609	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs560622128	chr14:65879610-65879611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs369147598	chr14:65879611-65879612	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs11624064	chr14:65879639-65879640	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65877600-65878600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr14:65877600-65882200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:65877600-65885400	Active TSS	GM12878-XiMat	blood
4	chr14:65877800-65879000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr14:65877800-65880400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:65877800-65880600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:65877800-65880600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:65877800-65881000	Active TSS	Fetal Intestine Small	intestine
9	chr14:65877800-65881600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:65877800-65882600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:65878000-65879000	Active TSS	Brain Germinal Matrix	brain
12	chr14:65878000-65879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:65878000-65879800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:65878000-65879800	Active TSS	Colonic Mucosa	Colon
15	chr14:65878000-65880200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:65878000-65880200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:65878000-65880200	Active TSS	Stomach Smooth Muscle	stomach
18	chr14:65878000-65880400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr14:65878000-65880400	Active TSS	Fetal Lung	lung
20	chr14:65878000-65880400	Active TSS	Fetal Stomach	stomach
21	chr14:65878000-65880400	Active TSS	Rectal Smooth Muscle	rectum
22	chr14:65878000-65880400	Active TSS	Thymus	Thymus
23	chr14:65878000-65880400	Active TSS	HSMM	muscle
24	chr14:65878000-65880600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:65878000-65880600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:65878000-65880600	Active TSS	Fetal Brain Male	brain
27	chr14:65878000-65880600	Active TSS	Fetal Brain Female	brain
28	chr14:65878000-65880600	Active TSS	Small Intestine	intestine
29	chr14:65878000-65880600	Active TSS	NHLF	lung
30	chr14:65878000-65880800	Active TSS	Placenta	Placenta
31	chr14:65878000-65880800	Active TSS	Right Atrium	heart
32	chr14:65878000-65881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr14:65878000-65881000	Active TSS	Fetal Kidney	kidney
34	chr14:65878000-65881000	Active TSS	HSMMtube	muscle
35	chr14:65878000-65881200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:65878000-65881400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:65878000-65881800	Active TSS	Brain Angular Gyrus	brain
38	chr14:65878000-65881800	Active TSS	Fetal Intestine Large	intestine
39	chr14:65878000-65882400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:65878200-65878600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr14:65878200-65879000	Active TSS	Fetal Heart	heart
42	chr14:65878200-65880200	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr14:65878200-65880200	Active TSS	Primary T cells from cord blood	blood
44	chr14:65878200-65880200	Active TSS	Primary T cells fromperipheralblood	blood
45	chr14:65878200-65880200	Active TSS	Fetal Muscle Leg	muscle
46	chr14:65878200-65880200	Active TSS	Fetal Thymus	thymus
47	chr14:65878200-65880200	Active TSS	Left Ventricle	heart
48	chr14:65878200-65880200	Active TSS	Pancreas	Pancrea
49	chr14:65878200-65880200	Active TSS	Right Ventricle	heart
50	chr14:65878200-65880400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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