Variant report

Variant	nsv1014013
Chromosome Location	chr4:2959876-3009507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1298)
CpG islands
(count:1588)
Chromatin interactive
region (count:67)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:2980146-2980370	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:2962087-2962384	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:2963128-2963328	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:2964060-2964256	K562	blood:	n/a	n/a
5	ARID3A	chr4:2979515-2979715	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:2964608-2964773	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:2963866-2964220	HepG2	liver:	n/a	n/a
8	ATF1	chr4:2965059-2965420	K562	blood:	n/a	n/a
9	ATF2	chr4:2964828-2965324	H1-hESC	embryonic stem cell:	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	ATF2	chr4:2964853-2965466	GM12878	blood:	n/a	n/a
13	ATF2	chr4:2980191-2980456	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr4:2965072-2965373	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr4:2979283-2979464	K562	blood:	n/a	n/a
16	ATF3	chr4:2964930-2965418	H1-hESC	embryonic stem cell:	n/a	chr4:2965048-2965057
17	ATF3	chr4:2964964-2965411	K562	blood:	n/a	chr4:2965048-2965057
18	BACH1	chr4:2964636-2965388	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:2964939-2965292	K562	blood:	n/a	n/a
20	BATF	chr4:2963732-2964116	GM12878	blood:	n/a	n/a
21	BATF	chr4:2963779-2964111	GM12878	blood:	n/a	n/a
22	BCLAF1	chr4:2964739-2965480	GM12878	blood:	n/a	chr4:2965252-2965265 chr4:2965188-2965201 chr4:2965309-2965318 chr4:2965291-2965299
23	BCLAF1	chr4:2964868-2965703	GM12878	blood:	n/a	chr4:2965252-2965265 chr4:2965188-2965201 chr4:2965309-2965318 chr4:2965291-2965299
24	BHLHE40	chr4:2964504-2965743	GM12878	blood:	n/a	chr4:2965049-2965065
25	BHLHE40	chr4:2964500-2965723	K562	blood:	n/a	chr4:2965049-2965065
26	BHLHE40	chr4:2979324-2979548	K562	blood:	n/a	n/a
27	BHLHE40	chr4:2966160-2966319	K562	blood:	n/a	n/a
28	BHLHE40	chr4:2964948-2965304	HepG2	liver:	n/a	chr4:2965049-2965065
29	BHLHE40	chr4:2964868-2965344	A549	lung:	n/a	chr4:2965049-2965065
30	BHLHE40	chr4:2964523-2965419	HepG2	liver:	n/a	chr4:2965049-2965065
31	BRCA1	chr4:2964483-2965545	Hela-S3	cervix:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
32	BRCA1	chr4:2964821-2965469	HepG2	liver:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
33	BRCA1	chr4:2964588-2965379	GM12878	blood:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
34	BRCA1	chr4:2963194-2963383	HepG2	liver:	n/a	n/a
35	BRCA1	chr4:2964410-2965416	H1-hESC	embryonic stem cell:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
36	CBX3	chr4:2979257-2979590	K562	blood:	n/a	n/a
37	CBX3	chr4:2982837-2983462	K562	blood:	n/a	n/a
38	CBX3	chr4:2964951-2965301	K562	blood:	n/a	n/a
39	CBX3	chr4:2982906-2983436	K562	blood:	n/a	n/a
40	CBX3	chr4:2964452-2965445	K562	blood:	n/a	n/a
41	CCNT2	chr4:2964642-2965835	K562	blood:	n/a	chr4:2965566-2965575
42	CEBPB	chr4:2965034-2965396	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr4:2978178-2978210	HepG2	liver:	n/a	chr4:2978189-2978200
44	CEBPB	chr4:2978176-2978200	K562	blood:	n/a	chr4:2978189-2978200
45	CEBPB	chr4:2966159-2966200	A549	lung:	n/a	n/a
46	CEBPB	chr4:2964180-2964478	K562	blood:	n/a	n/a
47	CEBPB	chr4:2969521-2969644	K562	blood:	n/a	n/a
48	CEBPB	chr4:2963492-2963904	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr4:2965073-2965334	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr4:2962145-2962326	K562	blood:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2964211-2964261	GM12878	blood:	n/a
2	chr4:2959836-2959886	SK-N-MC	brain:	n/a
3	chr4:2964211-2964261	GM12878	blood:	n/a
4	chr4:2959836-2959886	SK-N-MC	brain:	n/a
5	chr4:2964838-2964888	NB4	blood:	n/a
6	chr4:2965148-2965198	HCM	heart:	n/a
7	chr4:2964838-2964888	HEK293	kidney:	embryo
8	chr4:2965191-2965241	BJ	skin:	n/a
9	chr4:2966384-2966434	HRE	kidney:	n/a
10	chr4:2965311-2965361	HRCEpiC	kidney:	n/a
11	chr4:2965392-2965442	K562	blood:	n/a
12	chr4:2964211-2964261	NHDF-neo	bronchial:	n/a
13	chr4:2964239-2964289	SK-N-SH	brain:	n/a
14	chr4:2966919-2966969	RPTEC	kidney:	n/a
15	chr4:2965311-2965361	GM12891	blood:	n/a
16	chr4:2965841-2965891	H1-hESC	embryonic stem cell:	embryo
17	chr4:2967210-2967260	PFSK-1	brain:	n/a
18	chr4:2966982-2967032	GM12878	blood:	n/a
19	chr4:2964972-2965022	GM12891	blood:	n/a
20	chr4:2965191-2965241	Hepatocyte	liver:	n/a
21	chr4:2965841-2965891	Jurkat	blood:	n/a
22	chr4:2966384-2966434	AG10803	skin:	n/a
23	chr4:2964972-2965022	Jurkat	blood:	n/a
24	chr4:2965841-2965891	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:2964211-2964261	BJ	skin:	n/a
26	chr4:2965841-2965891	AG09319	gingival:	n/a
27	chr4:2965311-2965361	MCF10A-Er-Src	breast:	n/a
28	chr4:2964838-2964888	Jurkat	blood:	n/a
29	chr4:2966384-2966434	HCM	heart:	n/a
30	chr4:2964211-2964261	HRPEpiC	eye:	n/a
31	chr4:2965388-2965438	HMEC	breast:	n/a
32	chr4:2969998-2970048	NHDF-neo	bronchial:	n/a
33	chr4:2969998-2970048	U87	brain:	n/a
34	chr4:2964223-2964273	AG09309	skin:	n/a
35	chr4:2965203-2965253	AG09309	skin:	n/a
36	chr4:2965148-2965198	PFSK-1	brain:	n/a
37	chr4:2964910-2964960	MCF-7	breast:	n/a
38	chr4:2966919-2966969	H1-hESC	embryonic stem cell:	embryo
39	chr4:2965191-2965241	NHDF-neo	bronchial:	n/a
40	chr4:2965311-2965361	ovcar-3	ovarian:	n/a
41	chr4:2967210-2967260	AG09319	gingival:	n/a
42	chr4:2965311-2965361	HCPEpiC	choroid plexus:	n/a
43	chr4:2964211-2964261	LNCaP	prostate:	n/a
44	chr4:2967210-2967260	AG04450	lung:	fetal
45	chr4:2965388-2965438	HRPEpiC	eye:	n/a
46	chr4:2966384-2966434	AG04450	lung:	fetal
47	chr4:2965191-2965241	HNPCEpiC	eye:	n/a
48	chr4:2963264-2963314	SK-N-MC	brain:	n/a
49	chr4:2963264-2963314	ProgFib	skin:	n/a
50	chr4:2966982-2967032	HRE	kidney:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:2979100..2980940-chr4:2982118..2984600,2	K562	blood:
2	chr4:2965958..2968897-chr4:2971775..2974450,2	MCF-7	breast:
3	chr4:2756517..2759780-chr4:2963075..2966456,5	K562	blood:
4	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:
5	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
6	chr4:2965958..2968897-chr4:2971775..2974450,2	MCF-7	breast:
7	chr4:3009009..3010811-chr4:3023139..3026121,2	MCF-7	breast:
8	chr4:2948388..2950164-chr4:2962609..2964597,2	MCF-7	breast:
9	chr4:2964631..2965442-chr8:125486338..125486843,2	Hela-S3	cervix:
10	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:
11	chr4:2964356..2966158-chr4:3074837..3077632,2	K562	blood:
12	chr4:2979100..2980940-chr4:2982118..2984600,2	K562	blood:
13	chr4:2964172..2967061-chr4:2971431..2973552,4	K562	blood:
14	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
15	chr4:2970964..2973292-chr4:2975610..2977622,2	MCF-7	breast:
16	chr4:2937577..2939558-chr4:2961657..2964358,2	MCF-7	breast:
17	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
18	chr4:2963294..2966874-chr4:2971342..2975947,5	MCF-7	breast:
19	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
20	chr4:2979829..2980854-chr4:3038589..3039659,5	MCF-7	breast:
21	chr4:3005911..3008634-chr4:3009040..3011170,2	K562	blood:
22	chr4:2936565..2939326-chr4:2970679..2973500,2	K562	blood:
23	chr4:2962932..2965178-chr4:2965934..2967449,2	MCF-7	breast:
24	chr4:2963799..2967429-chr4:2967585..2973552,6	K562	blood:
25	chr4:2755330..2758068-chr4:2977611..2979327,2	K562	blood:
26	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
27	chr4:2948727..2950755-chr4:2959506..2963214,4	K562	blood:
28	chr4:3005911..3008634-chr4:3009040..3011170,2	K562	blood:
29	chr4:2980243..2980804-chr4:3039126..3039629,2	MCF-7	breast:
30	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:
31	chr4:2976299..2978558-chr4:2988951..2991027,2	K562	blood:
32	chr4:2982899..2985066-chr4:2988883..2990462,2	K562	blood:
33	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
34	chr4:2965936..2968451-chr4:2977512..2979704,2	K562	blood:
35	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
36	chr4:2960088..2962960-chr4:3074155..3076323,2	MCF-7	breast:
37	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
38	chr4:2970449..2973378-chr4:2977803..2979783,2	MCF-7	breast:
39	chr4:2970358..2972253-chr4:2973675..2976968,3	K562	blood:
40	chr4:2968827..2971800-chr4:2992655..2994613,2	K562	blood:
41	chr4:2973975..2975690-chr4:3027786..3029865,2	MCF-7	breast:
42	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
43	chr4:2961872..2963731-chr4:3064483..3066913,2	K562	blood:
44	chr4:2963409..2964972-chr4:2976613..2978274,2	MCF-7	breast:
45	chr4:2756517..2759604-chr4:2963075..2966301,5	K562	blood:
46	chr4:2963003..2965812-chr4:2978190..2981677,5	MCF-7	breast:
47	chr4:2993023..2995756-chr4:3021120..3023336,2	K562	blood:
48	chr4:2965936..2968451-chr4:2977512..2979704,2	K562	blood:
49	chr3:101567965..101568846-chr4:2964649..2965572,2	NB4	blood:
50	chr4:2963409..2964972-chr4:2976613..2978274,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD1-5	chr4:2970896-2971044	NONHSAT094839
2	lnc-ADD1-1	chr4:2963081-2963465	ENSG00000249673
3	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
ENSG00000251075	chromatin interactions
ENSG00000168884	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000109736	chromatin interactions
ENSG00000087274	chromatin interactions
ENSG00000125388	chromatin interactions
ENSG00000087269	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000249673	chromatin interactions
ENSG00000168924	chromatin interactions
PABPC4	miRNA target sites

Extended variants
information (count: 2182 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2182 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149806820	chr4:2959886-2959887	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537108120	chr4:2959890-2959891	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573468351	chr4:2959915-2959916	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557017911	chr4:2959972-2959973	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573705242	chr4:2959989-2959990	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544202396	chr4:2960003-2960004	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144772901	chr4:2960106-2960107	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372010777	chr4:2960112-2960113	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377102301	chr4:2960128-2960129	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs78876416	chr4:2960179-2960180	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561102395	chr4:2960193-2960194	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545193196	chr4:2960244-2960245	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563696685	chr4:2960297-2960298	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2515963	chr4:2960430-2960431	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs575351795	chr4:2960452-2960453	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544274622	chr4:2960461-2960462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs561025698	chr4:2960481-2960482	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144145658	chr4:2960616-2960617	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs75371137	chr4:2960627-2960628	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs181072892	chr4:2960638-2960639	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560842654	chr4:2960674-2960675	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185114866	chr4:2960686-2960687	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs146633682	chr4:2960737-2960738	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs539072536	chr4:2960817-2960818	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs189527576	chr4:2960823-2960824	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs550727444	chr4:2960860-2960861	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372421245	chr4:2960890-2960891	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs182323016	chr4:2960999-2961000	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552649617	chr4:2961019-2961020	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566770001	chr4:2961039-2961040	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577578456	chr4:2961042-2961043	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538525852	chr4:2961044-2961045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141477404	chr4:2961045-2961046	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs386670644	chr4:2961046-2961047	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191721496	chr4:2961047-2961048	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554685000	chr4:2961054-2961055	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566280361	chr4:2961058-2961059	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574590787	chr4:2961061-2961062	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183569196	chr4:2961067-2961068	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376282413	chr4:2961076-2961077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532861665	chr4:2961077-2961078	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546207740	chr4:2961086-2961087	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563156899	chr4:2961087-2961088	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531979302	chr4:2961090-2961091	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs6830234	chr4:2961091-2961092	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567369610	chr4:2961094-2961095	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs529717646	chr4:2961101-2961102	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546592242	chr4:2961102-2961103	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566318915	chr4:2961104-2961105	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs58778165	chr4:2961107-2961108	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 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:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2938000-2960400	Weak transcription	Right Atrium	heart
2	chr4:2938200-2962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:2938600-2960400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:2938600-2960400	Strong transcription	Brain Cingulate Gyrus	brain
6	chr4:2938600-2961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
8	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:2938800-2961000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:2938800-2961000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr4:2938800-2961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:2939000-2960200	Strong transcription	Lung	lung
13	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
14	chr4:2939200-2960000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr4:2939200-2960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:2939200-2961000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
18	chr4:2939400-2960000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:2939400-2960400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr4:2939400-2960400	Strong transcription	NHLF	lung
21	chr4:2939400-2960600	Strong transcription	Brain Hippocampus Middle	brain
22	chr4:2939400-2962200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:2939600-2960000	Strong transcription	Spleen	Spleen
24	chr4:2939600-2960800	Strong transcription	Fetal Brain Female	brain
25	chr4:2939600-2961400	Strong transcription	Dnd41	blood
26	chr4:2939600-2961600	Strong transcription	Fetal Thymus	thymus
27	chr4:2939800-2960600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr4:2939800-2960600	Strong transcription	HepG2	liver
29	chr4:2940000-2960000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:2940000-2960400	Strong transcription	NHEK	skin
31	chr4:2940000-2962200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr4:2941400-2960000	Strong transcription	Brain Angular Gyrus	brain
33	chr4:2941600-2960400	Strong transcription	HMEC	breast
34	chr4:2942600-2960400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:2945200-2960600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:2945400-2960600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:2945400-2961600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:2947200-2960600	Strong transcription	Thymus	Thymus
39	chr4:2948800-2963200	Strong transcription	Fetal Intestine Small	intestine
40	chr4:2949000-2961600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr4:2951000-2960000	Strong transcription	Esophagus	oesophagus
42	chr4:2951800-2960600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:2953200-2960000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:2953600-2963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:2954000-2960200	Strong transcription	Psoas Muscle	Psoas
46	chr4:2954400-2962400	Strong transcription	A549	lung
47	chr4:2954800-2960800	Strong transcription	Hela-S3	cervix
48	chr4:2956000-2963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:2956600-2960400	Strong transcription	Liver	Liver
50	chr4:2956800-2960800	Strong transcription	Left Ventricle	heart

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