Variant report

Variant	nsv537000
Chromosome Location	chr4:2964261-3011568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1347)
CpG islands
(count:1343)
Chromatin interactive
region (count:62)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:2979515-2979715	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:3011076-3011449	K562	blood:	n/a	n/a
3	ARID3A	chr4:2980146-2980370	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:2964608-2964773	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:3011066-3011492	HepG2	liver:	n/a	n/a
6	ATF1	chr4:2965059-2965420	K562	blood:	n/a	n/a
7	ATF2	chr4:2980191-2980456	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:2964828-2965324	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:2964853-2965466	GM12878	blood:	n/a	n/a
10	ATF2	chr4:2964805-2965413	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr4:2964894-2965383	GM12878	blood:	n/a	n/a
12	ATF3	chr4:2964930-2965418	H1-hESC	embryonic stem cell:	n/a	chr4:2965048-2965057
13	ATF3	chr4:2964964-2965411	K562	blood:	n/a	chr4:2965048-2965057
14	ATF3	chr4:2979283-2979464	K562	blood:	n/a	n/a
15	ATF3	chr4:2965072-2965373	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:2964636-2965388	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:2964939-2965292	K562	blood:	n/a	n/a
18	BCLAF1	chr4:2964868-2965703	GM12878	blood:	n/a	chr4:2965252-2965265 chr4:2965188-2965201 chr4:2965309-2965318 chr4:2965291-2965299
19	BCLAF1	chr4:2964739-2965480	GM12878	blood:	n/a	chr4:2965252-2965265 chr4:2965188-2965201 chr4:2965309-2965318 chr4:2965291-2965299
20	BHLHE40	chr4:2964948-2965304	HepG2	liver:	n/a	chr4:2965049-2965065
21	BHLHE40	chr4:3011155-3011372	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:2979324-2979548	K562	blood:	n/a	n/a
23	BHLHE40	chr4:2964504-2965743	GM12878	blood:	n/a	chr4:2965049-2965065
24	BHLHE40	chr4:2966160-2966319	K562	blood:	n/a	n/a
25	BHLHE40	chr4:2964500-2965723	K562	blood:	n/a	chr4:2965049-2965065
26	BHLHE40	chr4:2964523-2965419	HepG2	liver:	n/a	chr4:2965049-2965065
27	BHLHE40	chr4:2964868-2965344	A549	lung:	n/a	chr4:2965049-2965065
28	BRCA1	chr4:2964483-2965545	Hela-S3	cervix:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
29	BRCA1	chr4:2964588-2965379	GM12878	blood:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
30	BRCA1	chr4:2964821-2965469	HepG2	liver:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
31	BRCA1	chr4:2964410-2965416	H1-hESC	embryonic stem cell:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
32	CBX3	chr4:2964452-2965445	K562	blood:	n/a	n/a
33	CBX3	chr4:2982906-2983436	K562	blood:	n/a	n/a
34	CBX3	chr4:2964951-2965301	K562	blood:	n/a	n/a
35	CBX3	chr4:2982837-2983462	K562	blood:	n/a	n/a
36	CBX3	chr4:2979257-2979590	K562	blood:	n/a	n/a
37	CCNT2	chr4:2964642-2965835	K562	blood:	n/a	chr4:2965566-2965575
38	CEBPB	chr4:2966159-2966200	A549	lung:	n/a	n/a
39	CEBPB	chr4:2969521-2969644	K562	blood:	n/a	n/a
40	CEBPB	chr4:3011198-3011910	HepG2	liver:	n/a	chr4:3011874-3011887 chr4:3011875-3011887
41	CEBPB	chr4:2965073-2965334	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr4:2978176-2978200	K562	blood:	n/a	chr4:2978189-2978200
43	CEBPB	chr4:2990520-2990621	K562	blood:	n/a	n/a
44	CEBPB	chr4:2964180-2964478	K562	blood:	n/a	n/a
45	CEBPB	chr4:2978178-2978210	HepG2	liver:	n/a	chr4:2978189-2978200
46	CEBPB	chr4:2964881-2965395	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr4:2965034-2965396	Hela-S3	cervix:	n/a	n/a
48	CEBPD	chr4:2964873-2965176	HepG2	liver:	n/a	n/a
49	CHD1	chr4:2964842-2964970	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr4:2964735-2965286	GM12878	blood:	n/a	chr4:2965143-2965152

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2965195-2965245	AG09319	gingival:	n/a
2	chr4:2965195-2965245	AG09319	gingival:	n/a
3	chr4:2966919-2966969	IMR90	lung:	fetal
4	chr4:2965195-2965245	SK-N-SH_RA	brain:	n/a
5	chr4:2964239-2964289	HCF	heart:	n/a
6	chr4:2964910-2964960	HepG2	liver:	n/a
7	chr4:2964223-2964273	MCF-7	breast:	n/a
8	chr4:2965392-2965442	HCPEpiC	choroid plexus:	n/a
9	chr4:2964211-2964261	HAEpiC	amniotic membrane:	n/a
10	chr4:2964239-2964289	ECC-1	luminal epithelium:	n/a
11	chr4:2966919-2966969	NHBE	bronchial:	n/a
12	chr4:2964211-2964261	K562	blood:	n/a
13	chr4:2964211-2964261	AG04449	skin:	fetal
14	chr4:2969998-2970048	AG10803	skin:	n/a
15	chr4:2967106-2967156	GM06990	blood:	n/a
16	chr4:2966384-2966434	GM19239	blood:	n/a
17	chr4:2965195-2965245	SK-N-SH	brain:	n/a
18	chr4:2964838-2964888	Hepatocyte	liver:	n/a
19	chr4:2965195-2965245	NB4	blood:	n/a
20	chr4:2965841-2965891	HPAEpiC	pulmonary alveolar:	n/a
21	chr4:2964972-2965022	HepG2	liver:	n/a
22	chr4:2967210-2967260	PFSK-1	brain:	n/a
23	chr4:2966384-2966434	PFSK-1	brain:	n/a
24	chr4:2965203-2965253	HRPEpiC	eye:	n/a
25	chr4:2965841-2965891	HEEpiC	esophagus:	n/a
26	chr4:3000970-3001020	PrEC	prostate:	n/a
27	chr4:2969998-2970048	HL-60	blood:	n/a
28	chr4:2965203-2965253	BE2_C	brain:	n/a
29	chr4:2964223-2964273	GM12892	blood:	n/a
30	chr4:2964838-2964888	AG09309	skin:	n/a
31	chr4:2969998-2970048	SAEC	small airway:	n/a
32	chr4:2965203-2965253	HIPEpiC	eye:	n/a
33	chr4:2965392-2965442	HRCEpiC	kidney:	n/a
34	chr4:2966384-2966434	NB4	blood:	n/a
35	chr4:2964223-2964273	Hepatocyte	liver:	n/a
36	chr4:2966919-2966969	MCF10A-Er-Src	breast:	n/a
37	chr4:2964910-2964960	NHBE	bronchial:	n/a
38	chr4:2965195-2965245	ProgFib	skin:	n/a
39	chr4:2966982-2967032	HRPEpiC	eye:	n/a
40	chr4:2964211-2964261	ovcar-3	ovarian:	n/a
41	chr4:2964910-2964960	AG10803	skin:	n/a
42	chr4:2965203-2965253	HEK293	kidney:	embryo
43	chr4:2967106-2967156	GM12878	blood:	n/a
44	chr4:2965191-2965241	ECC-1	luminal epithelium:	n/a
45	chr4:2966982-2967032	RPTEC	kidney:	n/a
46	chr4:2964664-2964714	HRPEpiC	eye:	n/a
47	chr4:2964838-2964888	PrEC	prostate:	n/a
48	chr4:2965388-2965438	AG09319	gingival:	n/a
49	chr4:2967210-2967260	HRCEpiC	kidney:	n/a
50	chr4:2964910-2964960	GM12892	blood:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:2936565..2939326-chr4:2970679..2973500,2	K562	blood:
2	chr4:2963799..2967429-chr4:2967585..2973552,6	K562	blood:
3	chr4:2979100..2980940-chr4:2982118..2984600,2	K562	blood:
4	chr4:2965958..2968897-chr4:2971775..2974450,2	MCF-7	breast:
5	chr4:2964356..2966158-chr4:3074837..3077632,2	K562	blood:
6	chr4:2963409..2964972-chr4:2976613..2978274,2	MCF-7	breast:
7	chr4:3009009..3010811-chr4:3023139..3026121,2	MCF-7	breast:
8	chr4:2956703..2959553-chr4:2975091..2977278,2	MCF-7	breast:
9	chr4:2965936..2968451-chr4:2977512..2979704,2	K562	blood:
10	chr4:2982899..2985066-chr4:2988883..2990462,2	K562	blood:
11	chr4:2963003..2965812-chr4:2978190..2981677,5	MCF-7	breast:
12	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
13	chr4:2964172..2967061-chr4:2971431..2973552,4	K562	blood:
14	chr4:2965958..2968897-chr4:2971775..2974450,2	MCF-7	breast:
15	chr4:2974314..2976832-chr4:2978872..2980388,2	K562	blood:
16	chr4:2756517..2759780-chr4:2963075..2966456,5	K562	blood:
17	chr4:2845175..2847151-chr4:2963481..2966387,2	MCF-7	breast:
18	chr4:3005911..3008634-chr4:3009040..3011170,2	K562	blood:
19	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
20	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
21	chr4:2964631..2965442-chr8:125486338..125486843,2	Hela-S3	cervix:
22	chr4:2973975..2975690-chr4:3027786..3029865,2	MCF-7	breast:
23	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
24	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
25	chr4:2980243..2980804-chr4:3039126..3039629,2	MCF-7	breast:
26	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:
27	chr4:2963042..2965604-chr4:2968594..2970763,2	MCF-7	breast:
28	chr4:2968827..2971800-chr4:2992655..2994613,2	K562	blood:
29	chr4:2965936..2968451-chr4:2977512..2979704,2	K562	blood:
30	chr4:2970449..2973378-chr4:2977803..2979783,2	MCF-7	breast:
31	chr4:2970964..2973292-chr4:2975610..2977622,2	MCF-7	breast:
32	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:
33	chr4:2756517..2759604-chr4:2963075..2966301,5	K562	blood:
34	chr4:2979829..2980854-chr4:3038589..3039659,5	MCF-7	breast:
35	chr4:2963294..2966874-chr4:2971342..2975947,5	MCF-7	breast:
36	chr4:2948388..2950164-chr4:2962609..2964597,2	MCF-7	breast:
37	chr4:2963409..2964972-chr4:2976613..2978274,2	MCF-7	breast:
38	chr4:2937577..2939558-chr4:2961657..2964358,2	MCF-7	breast:
39	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:
40	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
41	chr4:2970964..2973292-chr4:2975610..2977622,2	MCF-7	breast:
42	chr4:2993023..2995756-chr4:3021120..3023336,2	K562	blood:
43	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:
44	chr4:2976299..2978558-chr4:2988951..2991027,2	K562	blood:
45	chr4:2970358..2972253-chr4:2973675..2976968,3	K562	blood:
46	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
47	chr4:1857657..1859808-chr4:2963800..2965708,2	MCF-7	breast:
48	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
49	chr4:2974314..2976832-chr4:2978872..2980388,2	K562	blood:
50	chr4:2976299..2978558-chr4:2988951..2991027,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD1-5	chr4:2970896-2971044	NONHSAT094839
2	lnc-ADD1-5	chr4:2972675-2972919	NONHSAT094839

No data

Variant related genes	Relation type
NOP14	TF binding region
GRK4	TF binding region
NOP14	CpG island
GRK4	CpG island
ENSG00000197386	chromatin interactions
ENSG00000249673	chromatin interactions
ENSG00000168924	chromatin interactions
ENSG00000168884	chromatin interactions
ENSG00000087269	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000125388	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000087274	chromatin interactions
ENSG00000109736	chromatin interactions
ENSG00000251075	chromatin interactions

Extended variants
information (count: 1979 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528690320	chr4:2964348-2964349	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs571360635	chr4:2964374-2964375	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs537044982	chr4:2964379-2964380	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs199513210	chr4:2964386-2964387	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs200062475	chr4:2964387-2964388	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs2488813	chr4:2964388-2964389	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs567567023	chr4:2964389-2964390	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs79391581	chr4:2964399-2964400	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs372530700	chr4:2964411-2964412	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs141399503	chr4:2964514-2964515	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs553208774	chr4:2964586-2964587	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs192051627	chr4:2964615-2964616	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs184106725	chr4:2964618-2964619	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs142268241	chr4:2964620-2964621	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs558673780	chr4:2964644-2964645	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs575288614	chr4:2964659-2964660	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs375536873	chr4:2964664-2964665	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs544208893	chr4:2964703-2964704	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs75370208	chr4:2964726-2964727	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs575101652	chr4:2964782-2964783	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs35356980	chr4:2964788-2964789	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs540600228	chr4:2964832-2964833	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs376998267	chr4:2964862-2964863	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs369011921	chr4:2964878-2964879	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs201666002	chr4:2964883-2964884	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs370167170	chr4:2964891-2964892	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs199574576	chr4:2964911-2964912	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs11543225	chr4:2964935-2964936	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs143605581	chr4:2964981-2964982	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs148023884	chr4:2964988-2964989	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs141744890	chr4:2965015-2965016	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs552756097	chr4:2965025-2965026	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
33	rs376870483	chr4:2965028-2965029	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
34	rs564979750	chr4:2965032-2965033	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
35	rs376807087	chr4:2965041-2965042	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
36	rs550571029	chr4:2965048-2965049	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
37	rs567176960	chr4:2965049-2965050	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
38	rs371278587	chr4:2965075-2965076	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
39	rs114678550	chr4:2965080-2965081	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
40	rs375602874	chr4:2965098-2965099	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	rs538449578	chr4:2965099-2965100	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	rs558289635	chr4:2965111-2965112	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	rs575351783	chr4:2965146-2965147	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	rs547214943	chr4:2965259-2965260	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs58849201	chr4:2965289-2965290	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs555027244	chr4:2965307-2965308	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs574775528	chr4:2965314-2965315	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs373054027	chr4:2965332-2965333	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs28619042	chr4:2965344-2965345	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs371123308	chr4:2965366-2965367	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2959200-2964400	Weak transcription	Aorta	Aorta
2	chr4:2963000-2964400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:2963000-2964600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr4:2963000-2964600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr4:2963000-2964600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr4:2963000-2964600	Flanking Active TSS	HUVEC	blood vessel
7	chr4:2963000-2964800	Flanking Active TSS	Liver	Liver
8	chr4:2963000-2965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:2963000-2965400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:2963000-2966400	Active TSS	Psoas Muscle	Psoas
11	chr4:2963200-2964400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:2963200-2964400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:2963200-2964400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr4:2963200-2964400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:2963200-2964400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr4:2963200-2964400	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr4:2963200-2964400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr4:2963200-2964400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:2963200-2964400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:2963200-2964400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:2963200-2964400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:2963200-2964400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr4:2963200-2964400	Flanking Active TSS	HSMM	muscle
24	chr4:2963200-2964400	Flanking Active TSS	NH-A	brain
25	chr4:2963200-2964400	Flanking Active TSS	Osteobl	bone
26	chr4:2963200-2964600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:2963200-2964600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:2963200-2964600	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr4:2963200-2964600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr4:2963200-2964600	Flanking Active TSS	Fetal Brain Female	brain
31	chr4:2963200-2964800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr4:2963200-2964800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr4:2963200-2964800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr4:2963200-2964800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr4:2963200-2965000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr4:2963200-2965000	Flanking Active TSS	Placenta	Placenta
37	chr4:2963200-2965000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr4:2963200-2965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:2963200-2965800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:2963200-2966000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr4:2963200-2966200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr4:2963200-2966800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:2963400-2964400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr4:2963400-2964400	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr4:2963400-2964600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr4:2963400-2965000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:2963400-2965800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr4:2963400-2966000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:2963400-2966400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr4:2963600-2964400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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