Variant report

Variant	nsv878494
Chromosome Location	chr4:3494600-3566567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1406)
CpG islands
(count:5805)
Chromatin interactive
region (count:82)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr4:3534190-3534376	K562	blood:	n/a	chr4:3534199-3534208
2	BACH1	chr4:3534341-3534527	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
4	BCL11A	chr4:3538736-3538904	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:3510967-3511421	GM12878	blood:	n/a	n/a
6	BCL3	chr4:3512243-3512645	GM12878	blood:	n/a	n/a
7	BCL3	chr4:3508714-3509066	GM12878	blood:	n/a	n/a
8	BCL3	chr4:3565347-3565556	GM12878	blood:	n/a	n/a
9	BCL3	chr4:3512247-3512618	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:3534103-3534388	GM12878	blood:	n/a	chr4:3534255-3534271
11	BHLHE40	chr4:3561241-3561607	HepG2	liver:	n/a	n/a
12	BHLHE40	chr4:3534312-3534557	K562	blood:	n/a	n/a
13	BHLHE40	chr4:3558900-3559131	HepG2	liver:	n/a	n/a
14	BHLHE40	chr4:3533473-3534097	K562	blood:	n/a	n/a
15	BHLHE40	chr4:3533592-3533765	HepG2	liver:	n/a	n/a
16	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
17	BHLHE40	chr4:3558966-3559121	K562	blood:	n/a	n/a
18	BHLHE40	chr4:3565199-3565519	K562	blood:	n/a	n/a
19	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
20	BHLHE40	chr4:3526656-3526687	K562	blood:	n/a	n/a
21	BHLHE40	chr4:3531217-3531410	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:3533345-3533603	GM12878	blood:	n/a	n/a
23	BRCA1	chr4:3533960-3534251	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr4:3534268-3534443	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr4:3533901-3534490	K562	blood:	n/a	n/a
26	CCNT2	chr4:3499440-3499519	K562	blood:	n/a	n/a
27	CCNT2	chr4:3503956-3504114	K562	blood:	n/a	chr4:3504025-3504034
28	CCNT2	chr4:3499800-3499935	K562	blood:	n/a	n/a
29	CCNT2	chr4:3516631-3516822	K562	blood:	n/a	n/a
30	CCNT2	chr4:3533326-3534821	K562	blood:	n/a	chr4:3534199-3534208
31	CEBPB	chr4:3558770-3559163	HepG2	liver:	n/a	chr4:3558956-3558967
32	CEBPB	chr4:3551376-3551680	K562	blood:	n/a	chr4:3551516-3551529
33	CEBPB	chr4:3558772-3559159	HepG2	liver:	n/a	chr4:3558956-3558967
34	CEBPB	chr4:3551360-3551570	HepG2	liver:	n/a	chr4:3551516-3551529
35	CEBPB	chr4:3558839-3559070	HepG2	liver:	n/a	chr4:3558956-3558967
36	CEBPB	chr4:3560092-3560217	HepG2	liver:	n/a	n/a
37	CEBPB	chr4:3558808-3559129	IMR90	lung:	n/a	chr4:3558956-3558967
38	CEBPB	chr4:3506326-3506475	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:3531243-3531383	HepG2	liver:	n/a	n/a
40	CEBPB	chr4:3531225-3531508	K562	blood:	n/a	chr4:3531492-3531500
41	CEBPB	chr4:3558850-3559038	K562	blood:	n/a	chr4:3558956-3558967
42	CEBPB	chr4:3558947-3558991	A549	lung:	n/a	chr4:3558956-3558967
43	CEBPB	chr4:3506327-3506529	IMR90	lung:	n/a	n/a
44	CEBPB	chr4:3558850-3559034	K562	blood:	n/a	chr4:3558956-3558967
45	CEBPB	chr4:3551364-3551634	K562	blood:	n/a	chr4:3551516-3551529
46	CEBPB	chr4:3533116-3533249	HepG2	liver:	n/a	n/a
47	CEBPB	chr4:3551405-3551575	IMR90	lung:	n/a	chr4:3551516-3551529
48	CEBPB	chr4:3531147-3531472	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:3558857-3559121	K562	blood:	n/a	chr4:3558956-3558967
50	CEBPB	chr4:3558847-3559069	HepG2	liver:	n/a	chr4:3558956-3558967

(count:5805 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3514627-3514677	BE2_C	brain:	n/a
2	chr4:3495341-3495391	Hela-S3	cervix:	n/a
3	chr4:3499546-3499596	SAEC	small airway:	n/a
4	chr4:3502518-3502568	PrEC	prostate:	n/a
5	chr4:3535009-3535059	MCF10A-Er-Src	breast:	n/a
6	chr4:3565893-3565943	SK-N-SH_RA	brain:	n/a
7	chr4:3507188-3507238	ovcar-3	ovarian:	n/a
8	chr4:3531603-3531653	K562	blood:	n/a
9	chr4:3525821-3525871	HEEpiC	esophagus:	n/a
10	chr4:3521738-3521788	GM12878	blood:	n/a
11	chr4:3514627-3514677	BE2_C	brain:	n/a
12	chr4:3495341-3495391	Hela-S3	cervix:	n/a
13	chr4:3499546-3499596	SAEC	small airway:	n/a
14	chr4:3502518-3502568	PrEC	prostate:	n/a
15	chr4:3535009-3535059	MCF10A-Er-Src	breast:	n/a
16	chr4:3565893-3565943	SK-N-SH_RA	brain:	n/a
17	chr4:3507188-3507238	ovcar-3	ovarian:	n/a
18	chr4:3531603-3531653	K562	blood:	n/a
19	chr4:3525821-3525871	HEEpiC	esophagus:	n/a
20	chr4:3521738-3521788	GM12878	blood:	n/a
21	chr4:3513990-3514040	H1-hESC	embryonic stem cell:	embryo
22	chr4:3521481-3521531	PrEC	prostate:	n/a
23	chr4:3496300-3496350	CMK	blood:	n/a
24	chr4:3505905-3505955	HUVEC	blood vessel:	n/a
25	chr4:3495341-3495391	HIPEpiC	eye:	n/a
26	chr4:3516637-3516687	U87	brain:	n/a
27	chr4:3503528-3503578	HEK293	kidney:	embryo
28	chr4:3522186-3522236	NH-A	brain:	n/a
29	chr4:3513990-3514040	NH-A	brain:	n/a
30	chr4:3500688-3500738	IMR90	lung:	fetal
31	chr4:3520760-3520810	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:3505042-3505092	HCT-116	colon:	n/a
33	chr4:3502518-3502568	PANC-1	pancreas:	n/a
34	chr4:3534424-3534474	BE2_C	brain:	n/a
35	chr4:3565893-3565943	ovcar-3	ovarian:	n/a
36	chr4:3563357-3563407	HL-60	blood:	n/a
37	chr4:3527371-3527421	IMR90	lung:	fetal
38	chr4:3500688-3500738	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:3561751-3561801	HRPEpiC	eye:	n/a
40	chr4:3526865-3526915	HCT-116	colon:	n/a
41	chr4:3502518-3502568	Hela-S3	cervix:	n/a
42	chr4:3516637-3516687	HRE	kidney:	n/a
43	chr4:3526865-3526915	HRE	kidney:	n/a
44	chr4:3510683-3510733	BJ	skin:	n/a
45	chr4:3526865-3526915	NHBE	bronchial:	n/a
46	chr4:3512392-3512442	U87	brain:	n/a
47	chr4:3514709-3514759	Hepatocyte	liver:	n/a
48	chr4:3528373-3528423	HCM	heart:	n/a
49	chr4:3535009-3535059	GM12891	blood:	n/a
50	chr4:3514800-3514850	HL-60	blood:	n/a

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
2	chr21:44846547..44847350-chr4:3533615..3534228,2	Hela-S3	cervix:
3	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
4	chr19:10443695..10444576-chr4:3533618..3534349,2	NB4	blood:
5	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:
6	chr4:3491515..3496273-chr4:3521421..3525528,4	MCF-7	breast:
7	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
8	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
9	chr17:8076317..8077036-chr4:3533772..3534554,2	Hela-S3	cervix:
10	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:
11	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
12	chr4:3557568..3561232-chr4:3567417..3570129,3	K562	blood:
13	chr4:3516564..3519822-chr4:3521615..3524887,4	K562	blood:
14	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
15	chr4:3505996..3508502-chr4:3532623..3535240,2	MCF-7	breast:
16	chr17:57970401..57971032-chr4:3533463..3534157,2	MCF-7	breast:
17	chr4:3464468..3466347-chr4:3532849..3534407,2	MCF-7	breast:
18	chr4:3532686..3534345-chr4:3544776..3546772,2	MCF-7	breast:
19	chr4:3484714..3487220-chr4:3532599..3535251,4	MCF-7	breast:
20	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
21	chr4:3512565..3514600-chr4:3532561..3535392,2	K562	blood:
22	chr17:41399188..41401020-chr4:3529125..3530625,2	K562	blood:
23	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
24	chr4:3510352..3513783-chr4:3527022..3529504,4	K562	blood:
25	chr4:3510428..3515439-chr4:3527713..3530558,4	K562	blood:
26	chr4:3499355..3501891-chr4:3505956..3508239,2	K562	blood:
27	chr4:3493092..3495587-chr4:3516926..3518473,2	K562	blood:
28	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
29	chr4:3510937..3515014-chr4:3516232..3518193,3	K562	blood:
30	chr4:3507434..3509576-chr4:3524898..3527608,2	K562	blood:
31	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
32	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
33	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
34	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
35	chr4:3505279..3507142-chr4:3509021..3511655,2	K562	blood:
36	chr4:3481541..3484039-chr4:3515010..3518175,3	MCF-7	breast:
37	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
38	chr4:3486660..3488700-chr4:3515117..3517237,2	MCF-7	breast:
39	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
40	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
41	chr4:3516783..3519822-chr4:3520546..3524887,6	K562	blood:
42	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
43	chr4:3532933..3534970-chr4:3765784..3768236,2	MCF-7	breast:
44	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
45	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
46	chr4:3521585..3525793-chr4:3532083..3534237,4	MCF-7	breast:
47	chr4:3521183..3522929-chr4:3528082..3530849,2	MCF-7	breast:
48	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:
49	chr4:3500336..3503326-chr4:3533188..3535879,5	MCF-7	breast:
50	chr4:3521425..3524025-chr4:3532674..3534479,3	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP3-368B9.1.1-2	chr4:3546666-3547063	XLOC_003427
2	lnc-RP3-368B9.1.1-2	chr4:3547897-3548077	XLOC_003427
3	lnc-RP3-368B9.1.1-2	chr4:3547897-3548075	XLOC_003427
4	lnc-RP3-368B9.1.1-2	chr4:3550188-3550309	XLOC_003427
5	lnc-RP3-368B9.1.1-2	chr4:3546822-3546956	ENSG00000270090.1
6	lnc-RP3-368B9.1.1-6	chr4:3561789-3562236	ucscGeneNc_uc003ghk_1
7	lnc-RP3-368B9.1.1-6	chr4:3560459-3560539	ucscGeneNc_uc003ghk_1
8	lnc-RP3-368B9.1.1-2	chr4:3550401-3550523	NONHSAT094884
9	lnc-RP3-368B9.1.1-2	chr4:3550188-3550315	ENSG00000270090.1
10	lnc-RP3-368B9.1.1-6	chr4:3548394-3548648	ucscGeneNc_uc003ghk_1
11	lnc-RP3-368B9.1.1-2	chr4:3547896-3548077	NONHSAT094884
12	lnc-RP3-368B9.1.1-6	chr4:3559576-3559712	ucscGeneNc_uc003ghk_1
13	lnc-RP3-368B9.1.1-2	chr4:3546433-3547467	NONHSAT094884
14	lnc-RP3-368B9.1.1-2	chr4:3546822-3546956	XLOC_003427
15	lnc-RP3-368B9.1.1-2	chr4:3546822-3546956	XLOC_003427
16	lnc-RP3-368B9.1.1-2	chr4:3546282-3546650	ENSG00000270090.1
17	lnc-RP3-368B9.1.1-2	chr4:3546615-3546650	XLOC_003427
18	lnc-RP3-368B9.1.1-2	chr4:3550187-3550309	NONHSAT094884
19	lnc-RP3-368B9.1.1-2	chr4:3546453-3546650	XLOC_003427
20	lnc-RP3-368B9.1.1-2	chr4:3550402-3550523	XLOC_003427
21	lnc-RP3-368B9.1.1-2	chr4:3547241-3547393	XLOC_003427

No data

Variant related genes	Relation type
ENSG00000268781	TF binding region
ENSG00000270090	TF binding region
LRPAP1	TF binding region
ENSG00000261643	TF binding region
ENSG00000268781	CpG island
ENSG00000270090	CpG island
LRPAP1	CpG island
ENSG00000261643	CpG island
ENSG00000253917	chromatin interactions
ENSG00000261643	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000169299	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000268781	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000270090	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000251669	chromatin interactions
ENSG00000184160	chromatin interactions
TGFBI	miRNA target sites
TGFA	miRNA target sites
TGFB2	miRNA target sites

Extended variants
information (count: 4115 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4115 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6811423	chr4:3494600-3494601	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554063441	chr4:3494601-3494602	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145040126	chr4:3494616-3494617	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs79063654	chr4:3494617-3494618	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141947707	chr4:3494631-3494632	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150415034	chr4:3494632-3494633	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138148221	chr4:3494634-3494635	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373158016	chr4:3494641-3494642	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376334067	chr4:3494669-3494670	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560882592	chr4:3494675-3494676	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112624739	chr4:3494676-3494677	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150728781	chr4:3494680-3494681	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546889092	chr4:3494684-3494685	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373041663	chr4:3494685-3494686	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376280466	chr4:3494686-3494687	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370661591	chr4:3494688-3494689	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200394790	chr4:3494707-3494708	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532130901	chr4:3494708-3494709	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377757018	chr4:3494720-3494721	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185050737	chr4:3494721-3494722	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370838856	chr4:3494733-3494734	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375877997	chr4:3494742-3494743	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189528618	chr4:3494744-3494745	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548282281	chr4:3494746-3494747	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568530359	chr4:3494750-3494751	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200284964	chr4:3494778-3494779	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368512847	chr4:3494780-3494781	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372407972	chr4:3494781-3494782	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554026540	chr4:3494796-3494797	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577156980	chr4:3494803-3494804	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201304841	chr4:3494804-3494805	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556239795	chr4:3494809-3494810	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375795223	chr4:3494816-3494817	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6811856	chr4:3494826-3494827	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371846002	chr4:3494846-3494847	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6831659	chr4:3494847-3494848	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs369242107	chr4:3494853-3494854	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574663125	chr4:3494854-3494855	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540583060	chr4:3494855-3494856	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs56769879	chr4:3494856-3494857	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560463670	chr4:3494857-3494858	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs149525610	chr4:3494881-3494882	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199525739	chr4:3494883-3494884	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144158112	chr4:3494884-3494885	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138797230	chr4:3494892-3494893	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs6850908	chr4:3494898-3494899	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs201426254	chr4:3494906-3494907	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149905649	chr4:3494917-3494918	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370039804	chr4:3494918-3494919	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs544278158	chr4:3494928-3494929	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1679 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3487200-3506800	Weak transcription	Psoas Muscle	Psoas
2	chr4:3487400-3497000	Weak transcription	Pancreas	Pancrea
3	chr4:3487400-3497800	Weak transcription	Right Atrium	heart
4	chr4:3487800-3501800	Weak transcription	Gastric	stomach
5	chr4:3488600-3507600	Weak transcription	Primary B cells from cord blood	blood
6	chr4:3489200-3495200	Weak transcription	Fetal Heart	heart
7	chr4:3489400-3496200	Weak transcription	Left Ventricle	heart
8	chr4:3489800-3506800	Weak transcription	Brain Angular Gyrus	brain
9	chr4:3490400-3495400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:3491000-3510200	Weak transcription	HMEC	breast
11	chr4:3491200-3495200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:3492200-3496400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:3492800-3497400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:3493000-3495000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr4:3493000-3496000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:3493400-3494600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:3493400-3496200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:3493400-3496600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr4:3493400-3497200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:3493400-3498200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:3493600-3494600	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr4:3493600-3495000	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr4:3493600-3495000	Enhancers	Osteobl	bone
24	chr4:3493600-3495600	Strong transcription	Aorta	Aorta
25	chr4:3493600-3496800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:3493800-3495600	Enhancers	HSMMtube	muscle
27	chr4:3493800-3496800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:3494000-3494600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:3494000-3494800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:3494000-3494800	Enhancers	HSMM	muscle
31	chr4:3494200-3494600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr4:3494200-3494800	Strong transcription	Right Ventricle	heart
33	chr4:3494200-3495200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:3494200-3496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:3494200-3533200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:3494400-3494800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:3494400-3495400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:3494400-3495400	ZNF genes & repeats	Spleen	Spleen
39	chr4:3494400-3495800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:3494600-3494800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr4:3494600-3495000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:3494600-3495000	Bivalent Enhancer	Placenta	Placenta
43	chr4:3494800-3495000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:3494800-3495000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:3494800-3495000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:3494800-3495000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr4:3494800-3495000	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr4:3494800-3495000	Genic enhancers	Right Ventricle	heart
49	chr4:3494800-3495600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:3494800-3495800	Flanking Active TSS	HSMM	muscle

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