Variant report

Variant	esv2759299
Chromosome Location	chr4:165801816-165976350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2093)
CpG islands
(count:2935)
Chromatin interactive
region (count:36)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2093 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:165938276-165938298	K562	blood:	n/a	n/a
2	ARID3A	chr4:165973852-165974037	K562	blood:	n/a	n/a
3	ATF2	chr4:165877669-165878118	GM12878	blood:	n/a	n/a
4	ATF2	chr4:165820081-165820453	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:165898293-165899043	GM12878	blood:	n/a	n/a
6	ATF2	chr4:165930888-165931294	GM12878	blood:	n/a	n/a
7	ATF2	chr4:165819988-165820431	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr4:165815851-165816286	GM12878	blood:	n/a	n/a
9	BATF	chr4:165856995-165857356	GM12878	blood:	n/a	n/a
10	BATF	chr4:165815873-165816270	GM12878	blood:	n/a	n/a
11	BATF	chr4:165857047-165857297	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:165857038-165857347	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:165856980-165857343	GM12878	blood:	n/a	n/a
14	BCLAF1	chr4:165877809-165878342	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:165898340-165899117	GM12878	blood:	n/a	chr4:165898823-165898832
16	BHLHE40	chr4:165815953-165816206	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:165877853-165878275	GM12878	blood:	n/a	n/a
18	BHLHE40	chr4:165877987-165878027	K562	blood:	n/a	n/a
19	BHLHE40	chr4:165857075-165857535	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:165880700-165880797	HepG2	liver:	n/a	n/a
21	BHLHE40	chr4:165927629-165927864	K562	blood:	n/a	n/a
22	BHLHE40	chr4:165898610-165899070	GM12878	blood:	n/a	n/a
23	BHLHE40	chr4:165811702-165812242	GM12878	blood:	n/a	n/a
24	BRCA1	chr4:165898635-165898831	GM12878	blood:	n/a	n/a
25	BRCA1	chr4:165859210-165859241	GM12878	blood:	n/a	n/a
26	CBX3	chr4:165877855-165878292	K562	blood:	n/a	n/a
27	CEBPB	chr4:165846154-165846243	K562	blood:	n/a	n/a
28	CEBPB	chr4:165928087-165928406	HepG2	liver:	n/a	n/a
29	CEBPB	chr4:165814888-165815064	K562	blood:	n/a	n/a
30	CEBPB	chr4:165924291-165924463	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr4:165918720-165918746	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr4:165893196-165893391	K562	blood:	n/a	n/a
33	CEBPB	chr4:165846118-165846395	HepG2	liver:	n/a	chr4:165846274-165846285
34	CEBPB	chr4:165918673-165918803	K562	blood:	n/a	n/a
35	CEBPB	chr4:165802030-165802424	MCF-7	breast:	n/a	n/a
36	CEBPB	chr4:165814884-165815014	A549	lung:	n/a	n/a
37	CEBPB	chr4:165801664-165801932	HepG2	liver:	n/a	chr4:165801839-165801856 chr4:165801842-165801855 chr4:165801797-165801808
38	CEBPB	chr4:165826250-165826537	K562	blood:	n/a	chr4:165826399-165826410
39	CEBPB	chr4:165826081-165826493	H1-hESC	embryonic stem cell:	n/a	chr4:165826085-165826098 chr4:165826399-165826410
40	CEBPB	chr4:165826242-165826531	HepG2	liver:	n/a	chr4:165826399-165826410
41	CEBPB	chr4:165824361-165824554	K562	blood:	n/a	n/a
42	CEBPB	chr4:165834764-165834970	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:165801600-165801995	H1-hESC	embryonic stem cell:	n/a	chr4:165801839-165801856 chr4:165801842-165801855 chr4:165801797-165801808
44	CEBPB	chr4:165824559-165824582	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr4:165826047-165826433	A549	lung:	n/a	chr4:165826085-165826098 chr4:165826399-165826410
46	CEBPB	chr4:165814991-165815031	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr4:165834769-165834969	K562	blood:	n/a	n/a
48	CHD1	chr4:165857436-165858121	GM12878	blood:	n/a	n/a
49	CHD1	chr4:165858664-165859460	GM12878	blood:	n/a	n/a
50	CHD2	chr4:165816236-165816280	GM12878	blood:	n/a	n/a

(count:2935 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:165850972-165851022	HUVEC	blood vessel:	n/a
2	chr4:165898825-165898875	HRCEpiC	kidney:	n/a
3	chr4:165898967-165899017	MCF10A-Er-Src	breast:	n/a
4	chr4:165878136-165878186	AG09309	skin:	n/a
5	chr4:165962373-165962423	NHBE	bronchial:	n/a
6	chr4:165854246-165854296	HMEC	breast:	n/a
7	chr4:165851077-165851127	HepG2	liver:	n/a
8	chr4:165850972-165851022	HUVEC	blood vessel:	n/a
9	chr4:165898825-165898875	HRCEpiC	kidney:	n/a
10	chr4:165898967-165899017	MCF10A-Er-Src	breast:	n/a
11	chr4:165878136-165878186	AG09309	skin:	n/a
12	chr4:165962373-165962423	NHBE	bronchial:	n/a
13	chr4:165854246-165854296	HMEC	breast:	n/a
14	chr4:165851077-165851127	HepG2	liver:	n/a
15	chr4:165954480-165954530	AG09319	gingival:	n/a
16	chr4:165953193-165953243	ProgFib	skin:	n/a
17	chr4:165878317-165878367	SAEC	small airway:	n/a
18	chr4:165850972-165851022	SKMC	muscle:	n/a
19	chr4:165928792-165928842	ProgFib	skin:	n/a
20	chr4:165953207-165953257	AoSMC	blood vessel:	n/a
21	chr4:165854246-165854296	MCF10A-Er-Src	breast:	n/a
22	chr4:165953131-165953181	HEK293	kidney:	embryo
23	chr4:165898848-165898898	Caco-2	colon:	n/a
24	chr4:165898707-165898757	HRCEpiC	kidney:	n/a
25	chr4:165899396-165899446	AG09309	skin:	n/a
26	chr4:165878317-165878367	A549	lung:	n/a
27	chr4:165962373-165962423	AoSMC	blood vessel:	n/a
28	chr4:165850972-165851022	NHBE	bronchial:	n/a
29	chr4:165900224-165900274	AG10803	skin:	n/a
30	chr4:165878136-165878186	SK-N-MC	brain:	n/a
31	chr4:165851077-165851127	AG09319	gingival:	n/a
32	chr4:165953100-165953150	HAEpiC	amniotic membrane:	n/a
33	chr4:165953028-165953078	SK-N-SH_RA	brain:	n/a
34	chr4:165954480-165954530	PrEC	prostate:	n/a
35	chr4:165877875-165877925	HAEpiC	amniotic membrane:	n/a
36	chr4:165898825-165898875	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:165851077-165851127	A549	lung:	n/a
38	chr4:165899396-165899446	SKMC	muscle:	n/a
39	chr4:165878085-165878135	GM19239	blood:	n/a
40	chr4:165898707-165898757	AoSMC	blood vessel:	n/a
41	chr4:165877045-165877095	HAEpiC	amniotic membrane:	n/a
42	chr4:165878037-165878087	HAEpiC	amniotic membrane:	n/a
43	chr4:165941348-165941398	MCF10A-Er-Src	breast:	n/a
44	chr4:165952835-165952885	LNCaP	prostate:	n/a
45	chr4:165953193-165953243	IMR90	lung:	fetal
46	chr4:165898926-165898976	PANC-1	pancreas:	n/a
47	chr4:165928792-165928842	MCF10A-Er-Src	breast:	n/a
48	chr4:165878742-165878792	NT2-D1	testis:	n/a
49	chr4:165898707-165898757	IMR90	lung:	fetal
50	chr4:165952835-165952885	NH-A	brain:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:165833603..165835632-chr4:165838442..165840941,2	MCF-7	breast:
2	chr4:165700661..165701216-chr4:165804953..165805488,2	MCF-7	breast:
3	chr4:165868495..165870203-chr4:165872665..165874987,2	MCF-7	breast:
4	chr4:165896605..165899172-chr4:165907116..165908745,2	MCF-7	breast:
5	chr4:165970250..165971885-chr4:165974946..165977597,2	K562	blood:
6	chr4:165960228..165961989-chr4:166032009..166034492,2	K562	blood:
7	chr4:165874581..165877460-chr4:165878651..165880772,2	K562	blood:
8	chr4:165874581..165877460-chr4:165878651..165880772,2	K562	blood:
9	chr4:165830577..165832077-chr7:25164613..25166543,2	MCF-7	breast:
10	chr4:165689047..165689634-chr4:165918458..165919146,2	MCF-7	breast:
11	chr4:165699281..165700032-chr4:165856272..165857241,2	MCF-7	breast:
12	chr4:165896605..165899172-chr4:165907116..165908745,2	MCF-7	breast:
13	chr4:165701014..165701543-chr4:165856051..165856573,2	MCF-7	breast:
14	chr4:165876074..165878048-chr4:165892405..165894471,2	MCF-7	breast:
15	chr4:165833603..165835632-chr4:165838442..165840941,2	MCF-7	breast:
16	chr4:165818735..165821525-chr4:166031427..166033920,2	K562	blood:
17	chr4:165969592..165971444-chr4:166032460..166035429,2	MCF-7	breast:
18	chr4:165700977..165701537-chr4:165804617..165805893,3	MCF-7	breast:
19	chr4:165876074..165878048-chr4:165892405..165894471,2	MCF-7	breast:
20	chr4:165970250..165971885-chr4:165974946..165977597,2	K562	blood:
21	chr4:165800303..165802984-chr4:165804742..165807562,2	K562	blood:
22	chr4:165974526..165976593-chr4:165977721..165979309,2	K562	blood:
23	chr4:165970249..165971885-chr4:165974946..165978272,3	K562	blood:
24	chr1:11966992..11968590-chr4:165867023..165868624,2	K562	blood:
25	chr4:165918473..165921448-chr4:165932774..165935050,2	K562	blood:
26	chr4:165877284..165881205-chr4:165885674..165889440,5	MCF-7	breast:
27	chr4:165923507..165926386-chr4:165928187..165930464,2	K562	blood:
28	chr4:165800303..165802984-chr4:165804742..165807562,2	K562	blood:
29	chr4:165868972..165872041-chr4:165876298..165879460,3	MCF-7	breast:
30	chr4:165970249..165971885-chr4:165974946..165978272,3	K562	blood:
31	chr4:165868972..165872041-chr4:165876298..165879460,3	MCF-7	breast:
32	chr4:165856166..165858715-chr4:165877906..165879898,2	MCF-7	breast:
33	chr4:165877542..165879531-chr4:165880684..165882237,2	MCF-7	breast:
34	chr4:165876835..165879626-chr4:165882281..165885476,4	MCF-7	breast:
35	chr20:46642449..46643323-chr4:165975537..165976037,2	MCF-7	breast:
36	chr4:165866322..165867965-chr4:165877072..165879577,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM61-4	chr4:165850646-165851103	NONHSAT099089
2	lnc-TRIM61-1	chr4:165928238-165928367	XLOC_004145
3	lnc-TRIM61-6	chr4:165933518-165933997	NONHSAT099100
4	lnc-C4orf39-1	chr4:165816368-165818669	NONHSAT099084
5	lnc-C4orf39-3	chr4:165883229-165883240	NONHSAT099093
6	lnc-TRIM61-2	chr4:165856103-165856321	NONHSAT099091
7	lnc-C4orf39-4	chr4:165908417-165908939	NONHSAT099095
8	lnc-C4orf39-3	chr4:165882287-165882345	NONHSAT099093
9	lnc-C4orf39-3	chr4:165899902-165899980	NONHSAT099093
10	lnc-TRIM61-1	chr4:165928495-165929111	XLOC_004145
11	lnc-C4orf39-5	chr4:165911021-165911093	l_2770_chr4:165894766-165911093_prostate
12	lnc-C4orf39-1	chr4:165819878-165820117	ENSG00000248329
13	lnc-C4orf39-6	chr4:165836717-165838135	NONHSAT099087
14	lnc-C4orf39-5	chr4:165894767-165895013	l_2770_chr4:165894766-165911093_prostate
15	lnc-C4orf39-1	chr4:165819878-165820117	ENSG00000248329
16	lnc-TMEM192-4	chr4:165889739-165891154	NONHSAT099094
17	lnc-TRIM60-1	chr4:165967121-165967432	NONHSAT099101
18	lnc-C4orf39-1	chr4:165817960-165818137	ENSG00000248329
19	lnc-C4orf39-1	chr4:165817616-165818137	ENSG00000248329
20	lnc-C4orf39-3	chr4:165869231-165869699	NONHSAT099093
21	lnc-C4orf39-1	chr4:165816568-165818676	NONHSAT099080
22	lnc-TRIM61-5	chr4:165841770-165842215	NONHSAT099088
23	lnc-C4orf39-1	chr4:165816568-165818675	ENSG00000248329

No data

Variant related genes	Relation type
ENSG00000250430	TF binding region
ENSG00000250712	TF binding region
ENSG00000250374	TF binding region
ENSG00000236941	TF binding region
TRIM60	TF binding region
FAM218A	TF binding region
TRIM61	TF binding region
ENSG00000270960	TF binding region
ENSG00000248229	TF binding region
ENSG00000248645	TF binding region
ENSG00000249617	TF binding region
ENSG00000250887	TF binding region
NACA3P	TF binding region
FAM218BP	TF binding region
ENSG00000248329	TF binding region
ENSG00000244146	TF binding region
ENSG00000240674	TF binding region
TRIM60P14	TF binding region
ENSG00000248632	TF binding region
ENSG00000250430	CpG island
ENSG00000250712	CpG island
ENSG00000250374	CpG island
ENSG00000236941	CpG island
TRIM60	CpG island
FAM218A	CpG island
TRIM61	CpG island
ENSG00000270960	CpG island
ENSG00000248229	CpG island
ENSG00000248645	CpG island
ENSG00000249617	CpG island
ENSG00000250887	CpG island
NACA3P	CpG island
FAM218BP	CpG island
ENSG00000248329	CpG island
ENSG00000244146	CpG island
ENSG00000240674	CpG island
TRIM60P14	CpG island
ENSG00000248632	CpG island
ENSG00000250887	chromatin interactions
ENSG00000236941	chromatin interactions
ENSG00000183439	chromatin interactions
ENSG00000250486	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000170088	chromatin interactions
ENSG00000248229	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000240674	chromatin interactions
SAPS2	miRNA target sites
DNAJB4	miRNA target sites
TMEM63B	miRNA target sites
TRAIP	miRNA target sites
RNF149	miRNA target sites

Extended variants
information (count: 5399 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5399 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113947336	chr4:165801875-165801876	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs574448535	chr4:165801880-165801881	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs373255226	chr4:165801933-165801934	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs563396138	chr4:165802001-165802002	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377329826	chr4:165802042-165802043	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73871521	chr4:165802046-165802047	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545963280	chr4:165802053-165802054	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149255545	chr4:165802069-165802070	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573808399	chr4:165802084-165802085	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570646960	chr4:165802095-165802096	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528391873	chr4:165802097-165802098	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74897777	chr4:165802107-165802108	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77480913	chr4:165802114-165802115	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367740398	chr4:165802127-165802128	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370169258	chr4:165802196-165802197	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529276627	chr4:165802356-165802357	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550840614	chr4:165802421-165802422	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569310786	chr4:165802446-165802447	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539677684	chr4:165802523-165802524	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60792788	chr4:165802562-165802563	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567040131	chr4:165802644-165802645	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs71618423	chr4:165802659-165802660	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs7694917	chr4:165802660-165802661	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555383036	chr4:165802662-165802663	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs144439764	chr4:165802673-165802674	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs565723269	chr4:165802686-165802687	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs536851409	chr4:165802687-165802688	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs57831846	chr4:165802695-165802696	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs17045731	chr4:165802724-165802725	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs57082797	chr4:165802755-165802756	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184769014	chr4:165802762-165802763	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs57145749	chr4:165802766-165802767	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs56396348	chr4:165802774-165802775	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572660874	chr4:165802789-165802790	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs540176035	chr4:165802889-165802890	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs561644225	chr4:165802916-165802917	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs139561279	chr4:165802922-165802923	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs11340116	chr4:165803025-165803026	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573057238	chr4:165803026-165803027	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111738699	chr4:165803059-165803060	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370683577	chr4:165803060-165803061	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386681626	chr4:165803063-165803064	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192230034	chr4:165803065-165803066	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185080681	chr4:165803067-165803068	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77860024	chr4:165803106-165803107	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527887762	chr4:165803118-165803119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534821745	chr4:165803143-165803144	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74458030	chr4:165803187-165803188	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190024946	chr4:165803197-165803198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533913492	chr4:165803215-165803216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165798800-165809400	Weak transcription	Fetal Lung	lung
2	chr4:165799400-165803000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
3	chr4:165799800-165802000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr4:165799800-165802200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:165799800-165803000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
6	chr4:165799800-165803000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
7	chr4:165800200-165802200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr4:165800600-165802200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:165800800-165805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:165800800-165822400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:165801000-165802000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:165801400-165802000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr4:165801600-165802000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:165801600-165809800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:165801800-165802000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:165801800-165802200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:165801800-165802600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:165802000-165802400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:165802000-165802600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
20	chr4:165802000-165803000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:165802000-165803000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
22	chr4:165802200-165802600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:165802200-165802600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:165802200-165802800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:165802200-165802800	Enhancers	Fetal Kidney	kidney
26	chr4:165802200-165803200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:165802400-165802800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:165802600-165802800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:165802600-165803000	Genic enhancers	H9 Cell Line	embryonic stem cell
30	chr4:165802600-165812400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr4:165802800-165805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:165802800-165805400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:165803000-165803200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:165803000-165803200	Enhancers	Lung	lung
35	chr4:165803000-165804200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:165803000-165805400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:165803000-165809600	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr4:165803000-165811800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:165803000-165813800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:165803200-165804400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:165803200-165811600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:165804200-165804400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:165804400-165805800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:165804400-165808400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:165805000-165807600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:165805400-165805800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:165805400-165806400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:165805600-165806400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:165805800-165807400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:165805800-165814400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links