Variant report

Variant	esv3440752
Chromosome Location	chr4:2934679-2937727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:826)
CpG islands
(count:1343)
Chromatin interactive
region (count:39)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:2936634-2936636	HepG2	liver:	n/a	n/a
2	ATF1	chr4:2936441-2936774	K562	blood:	n/a	n/a
3	ATF2	chr4:2936445-2937013	GM12878	blood:	n/a	n/a
4	ATF2	chr4:2937173-2939955	GM12878	blood:	n/a	n/a
5	ATF2	chr4:2937210-2939919	GM12878	blood:	n/a	n/a
6	BACH1	chr4:2937205-2937222	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:2935759-2936104	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:2936421-2936838	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr4:2937726-2938233	GM12878	blood:	n/a	n/a
10	BATF	chr4:2937681-2938288	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:2937712-2938305	GM12878	blood:	n/a	n/a
12	BCL3	chr4:2937632-2939719	GM12878	blood:	n/a	n/a
13	BCL3	chr4:2937085-2938251	A549	lung:	n/a	n/a
14	BCL3	chr4:2937684-2938782	A549	lung:	n/a	n/a
15	BCLAF1	chr4:2936496-2936846	GM12878	blood:	n/a	chr4:2936597-2936606
16	BCLAF1	chr4:2937083-2937501	GM12878	blood:	n/a	n/a
17	BCLAF1	chr4:2937706-2939670	GM12878	blood:	n/a	n/a
18	BCLAF1	chr4:2936525-2939657	GM12878	blood:	n/a	chr4:2936597-2936606
19	BHLHE40	chr4:2936393-2937510	GM12878	blood:	n/a	chr4:2936554-2936570
20	BHLHE40	chr4:2936444-2936845	HepG2	liver:	n/a	chr4:2936554-2936570
21	BHLHE40	chr4:2936419-2938344	K562	blood:	n/a	chr4:2936554-2936570
22	BHLHE40	chr4:2935779-2935869	GM12878	blood:	n/a	n/a
23	BRCA1	chr4:2936476-2936769	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr4:2936521-2936698	HepG2	liver:	n/a	n/a
25	BRCA1	chr4:2936750-2936764	GM12878	blood:	n/a	n/a
26	CBX3	chr4:2937725-2938262	K562	blood:	n/a	n/a
27	CBX3	chr4:2936440-2936842	K562	blood:	n/a	n/a
28	CCNT2	chr4:2936478-2937355	K562	blood:	n/a	n/a
29	CCNT2	chr4:2935979-2936088	K562	blood:	n/a	n/a
30	CCNT2	chr4:2937648-2938245	K562	blood:	n/a	n/a
31	CEBPB	chr4:2935802-2935961	K562	blood:	n/a	n/a
32	CEBPB	chr4:2935700-2936045	IMR90	lung:	n/a	n/a
33	CEBPB	chr4:2937598-2939916	GM12878	blood:	n/a	n/a
34	CEBPB	chr4:2935735-2935996	A549	lung:	n/a	n/a
35	CEBPB	chr4:2935730-2936027	K562	blood:	n/a	n/a
36	CEBPB	chr4:2936592-2936837	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr4:2935720-2935942	K562	blood:	n/a	n/a
38	CEBPB	chr4:2937452-2937728	K562	blood:	n/a	n/a
39	CEBPB	chr4:2936488-2936874	GM12878	blood:	n/a	n/a
40	CEBPD	chr4:2936449-2936849	HepG2	liver:	n/a	n/a
41	CEBPD	chr4:2937614-2938202	K562	blood:	n/a	n/a
42	CEBPD	chr4:2936462-2936838	K562	blood:	n/a	n/a
43	CHD1	chr4:2935616-2936100	GM12878	blood:	n/a	n/a
44	CHD1	chr4:2936587-2939499	GM12878	blood:	n/a	n/a
45	CHD2	chr4:2936548-2936855	HepG2	liver:	n/a	n/a
46	CHD2	chr4:2936481-2936838	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr4:2937107-2938240	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr4:2936611-2936737	K562	blood:	n/a	n/a
49	CHD2	chr4:2936507-2936776	GM12878	blood:	n/a	n/a
50	CHD2	chr4:2936600-2936746	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2936657-2936707	Hela-S3	cervix:	n/a
2	chr4:2936657-2936707	Hela-S3	cervix:	n/a
3	chr4:2937153-2937203	HRE	kidney:	n/a
4	chr4:2936155-2936205	Jurkat	blood:	n/a
5	chr4:2935998-2936048	HepG2	liver:	n/a
6	chr4:2936155-2936205	HNPCEpiC	eye:	n/a
7	chr4:2936284-2936334	H1-hESC	embryonic stem cell:	embryo
8	chr4:2936732-2936782	AG04450	lung:	fetal
9	chr4:2935884-2935934	SAEC	small airway:	n/a
10	chr4:2936973-2937023	RPTEC	kidney:	n/a
11	chr4:2937252-2937302	IMR90	lung:	fetal
12	chr4:2937153-2937203	AG10803	skin:	n/a
13	chr4:2936732-2936782	HIPEpiC	eye:	n/a
14	chr4:2935692-2935742	BE2_C	brain:	n/a
15	chr4:2936740-2936790	GM06990	blood:	n/a
16	chr4:2936155-2936205	BJ	skin:	n/a
17	chr4:2935692-2935742	Caco-2	colon:	n/a
18	chr4:2936732-2936782	HCM	heart:	n/a
19	chr4:2936127-2936177	SKMC	muscle:	n/a
20	chr4:2936131-2936181	HEEpiC	esophagus:	n/a
21	chr4:2936724-2936774	SK-N-SH_RA	brain:	n/a
22	chr4:2936648-2936698	T-47D	breast:	n/a
23	chr4:2937153-2937203	HCT-116	colon:	n/a
24	chr4:2937381-2937431	HRPEpiC	eye:	n/a
25	chr4:2936131-2936181	ovcar-3	ovarian:	n/a
26	chr4:2937134-2937184	A549	lung:	n/a
27	chr4:2936131-2936181	Caco-2	colon:	n/a
28	chr4:2936127-2936177	AoSMC	blood vessel:	n/a
29	chr4:2936284-2936334	HEK293	kidney:	embryo
30	chr4:2937252-2937302	ovcar-3	ovarian:	n/a
31	chr4:2936155-2936205	GM12878	blood:	n/a
32	chr4:2936648-2936698	MCF10A-Er-Src	breast:	n/a
33	chr4:2935996-2936046	HUVEC	blood vessel:	n/a
34	chr4:2936973-2937023	SK-N-SH_RA	brain:	n/a
35	chr4:2936706-2936756	PrEC	prostate:	n/a
36	chr4:2936032-2936082	PFSK-1	brain:	n/a
37	chr4:2936032-2936082	BE2_C	brain:	n/a
38	chr4:2936706-2936756	HEK293	kidney:	embryo
39	chr4:2936583-2936633	HMEC	breast:	n/a
40	chr4:2936131-2936181	NB4	blood:	n/a
41	chr4:2936583-2936633	T-47D	breast:	n/a
42	chr4:2936724-2936774	HUVEC	blood vessel:	n/a
43	chr4:2936706-2936756	AG04449	skin:	fetal
44	chr4:2936127-2936177	K562	blood:	n/a
45	chr4:2937252-2937302	HIPEpiC	eye:	n/a
46	chr4:2936032-2936082	CMK	blood:	n/a
47	chr4:2937153-2937203	AoSMC	blood vessel:	n/a
48	chr4:2935998-2936048	NB4	blood:	n/a
49	chr4:2936155-2936205	PrEC	prostate:	n/a
50	chr4:2937153-2937203	GM12892	blood:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
2	chr4:2818050..2820446-chr4:2931198..2934919,4	MCF-7	breast:
3	chr4:2903718..2915473-chr4:2930612..2941584,27	MCF-7	breast:
4	chr10:1094654..1095194-chr4:2936214..2937126,2	HCT-116	colon:
5	chr4:2876022..2879054-chr4:2934409..2936795,3	MCF-7	breast:
6	chr4:2756586..2759605-chr4:2935863..2938872,4	K562	blood:
7	chr4:2934778..2935401-chr4:3038500..3039044,2	MCF-7	breast:
8	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
9	chr4:2818330..2820965-chr4:2936129..2938646,4	MCF-7	breast:
10	chr4:2753882..2759883-chr4:2932429..2941474,15	MCF-7	breast:
11	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
12	chr4:2936215..2937210-chr6:30712290..30712902,2	Hela-S3	cervix:
13	chr4:2936565..2939326-chr4:2970679..2973500,2	K562	blood:
14	chr4:2937332..2937943-chrX:41193378..41193993,2	Hela-S3	cervix:
15	chr4:2744637..2750348-chr4:2934999..2939149,7	MCF-7	breast:
16	chr4:2844179..2847079-chr4:2935598..2937938,4	MCF-7	breast:
17	chr4:2937494..2938263-chrX:11129002..11129919,2	Hela-S3	cervix:
18	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
19	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
20	chr4:2866956..2870306-chr4:2932983..2937533,4	K562	blood:
21	chr4:2830493..2833231-chr4:2936573..2940194,3	MCF-7	breast:
22	chr18:3447926..3450158-chr4:2936583..2939331,2	MCF-7	breast:
23	chr4:2756410..2759745-chr4:2935120..2939466,6	K562	blood:
24	chr17:56736053..56736784-chr4:2936104..2936931,2	MCF-7	breast:
25	chr4:2799331..2801814-chr4:2936733..2939693,2	K562	blood:
26	chr4:2756666..2758401-chr4:2934532..2936638,2	MCF-7	breast:
27	chr1:149856723..149858846-chr4:2935922..2938266,2	MCF-7	breast:
28	chr4:2937223..2937791-chrX:15808121..15808824,2	Hela-S3	cervix:
29	chr4:2936453..2937117-chr6:26123746..26124250,2	Hela-S3	cervix:
30	chr4:774518..776312-chr4:2935741..2938166,2	MCF-7	breast:
31	chr19:34745246..34746081-chr4:2936697..2937417,2	HCT-116	colon:
32	chr4:2913655..2916522-chr4:2935033..2937103,2	MCF-7	breast:
33	chr4:2798466..2800490-chr4:2934363..2936581,2	K562	blood:
34	chr4:2906552..2911481-chr4:2934891..2942965,11	MCF-7	breast:
35	chr12:69201868..69202426-chr4:2936526..2937190,2	Hela-S3	cervix:
36	chr4:2898532..2900285-chr4:2936066..2937849,2	MCF-7	breast:
37	chr4:2867681..2870567-chr4:2936383..2939288,2	MCF-7	breast:
38	chr4:2818590..2823604-chr4:2934968..2940177,8	MCF-7	breast:
39	chr4:2935808..2938115-chr4:3076304..3078834,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD1-1	chr4:2937273-2939869	ENSG00000249673
2	lnc-ADD1-1	chr4:2937273-2938617	ENSG00000249673
3	lnc-ADD1-1	chr4:2937273-2938617	ENSG00000249673.2
4	lnc-ADD1-1	chr4:2937414-2937462	NONHSAT094831
5	lnc-ADD1-1	chr4:2937278-2939869	NR_015453

No data

Variant related genes	Relation type
NOP14-AS1	TF binding region
MFSD10	TF binding region
NOP14-AS1	CpG island
MFSD10	CpG island
ENSG00000087274	chromatin interactions
ENSG00000087266	chromatin interactions
ENSG00000135679	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000004961	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000087269	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000166398	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000125388	chromatin interactions
ENSG00000234129	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000168884	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000169249	chromatin interactions
GINS1	miRNA target sites
BPTF	miRNA target sites

Extended variants
information (count: 158 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535515568	chr4:2934765-2934766	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs554982095	chr4:2934774-2934775	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs370333626	chr4:2934780-2934781	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs372189805	chr4:2934792-2934793	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs375499892	chr4:2934799-2934800	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs531401082	chr4:2934808-2934809	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs375505196	chr4:2934850-2934851	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs368324724	chr4:2934862-2934863	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs372645277	chr4:2934887-2934888	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs141118671	chr4:2934893-2934894	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs34745961	chr4:2934920-2934921	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563475962	chr4:2934924-2934925	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs201059393	chr4:2934939-2934940	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs529413507	chr4:2935007-2935008	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs543098064	chr4:2935020-2935021	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs550599688	chr4:2935031-2935032	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs569241427	chr4:2935075-2935076	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs528448715	chr4:2935076-2935077	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs115517962	chr4:2935100-2935101	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs539401077	chr4:2935102-2935103	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs147621912	chr4:2935105-2935106	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs531223150	chr4:2935110-2935111	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs367753996	chr4:2935123-2935124	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs567836285	chr4:2935125-2935126	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs113435096	chr4:2935127-2935128	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs535205016	chr4:2935149-2935150	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs577036044	chr4:2935155-2935156	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs551872406	chr4:2935182-2935183	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs554994630	chr4:2935191-2935192	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs565356248	chr4:2935195-2935196	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs534284158	chr4:2935199-2935200	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs563430811	chr4:2935207-2935208	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs557314047	chr4:2935208-2935209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs368141029	chr4:2935213-2935214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs142239461	chr4:2935238-2935239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs2301374	chr4:2935251-2935252	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573740100	chr4:2935261-2935262	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs375925200	chr4:2935265-2935266	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs559858288	chr4:2935269-2935270	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs371699902	chr4:2935273-2935274	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs201646544	chr4:2935290-2935291	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs112669434	chr4:2935300-2935301	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs371387600	chr4:2935303-2935304	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs375853489	chr4:2935309-2935310	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs138870064	chr4:2935313-2935314	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs149408533	chr4:2935337-2935338	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs146324311	chr4:2935342-2935343	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs565263193	chr4:2935343-2935344	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs531158789	chr4:2935345-2935346	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs138349606	chr4:2935363-2935364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
3	chr4:2912600-2934800	Weak transcription	A549	lung
4	chr4:2913000-2935000	Weak transcription	K562	blood
5	chr4:2924200-2934800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:2925200-2934800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:2925800-2935000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:2926200-2935000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:2926600-2935200	Weak transcription	Fetal Kidney	kidney
10	chr4:2926600-2936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:2928600-2935000	Weak transcription	Small Intestine	intestine
12	chr4:2928600-2935200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:2930000-2934800	Weak transcription	NHDF-Ad	bronchial
14	chr4:2930600-2935200	Genic enhancers	Lung	lung
15	chr4:2931000-2934800	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr4:2931400-2935200	Weak transcription	Brain Substantia Nigra	brain
17	chr4:2931800-2935000	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr4:2932000-2934800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:2932000-2935000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:2932000-2935000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:2932000-2935000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:2932000-2935200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr4:2932200-2935400	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr4:2932200-2935600	Enhancers	Stomach Mucosa	stomach
25	chr4:2932200-2935800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:2932200-2936000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:2932400-2934800	Weak transcription	Brain Angular Gyrus	brain
28	chr4:2932400-2935000	Weak transcription	Ovary	ovary
29	chr4:2932400-2935200	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:2932600-2934800	Enhancers	Brain Cingulate Gyrus	brain
31	chr4:2932600-2934800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:2932600-2935000	Weak transcription	HepG2	liver
33	chr4:2932600-2935200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:2932600-2935400	Enhancers	Left Ventricle	heart
35	chr4:2932600-2935400	Genic enhancers	Spleen	Spleen
36	chr4:2932800-2935000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:2932800-2935200	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:2932800-2935600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:2933000-2934800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:2933000-2935000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr4:2933200-2934800	Weak transcription	HSMMtube	muscle
42	chr4:2933200-2935000	Weak transcription	Aorta	Aorta
43	chr4:2933200-2935400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:2933200-2935400	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:2933200-2935600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:2933200-2935800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:2933200-2935800	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:2933400-2934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:2933400-2935000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:2933400-2935600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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