Variant report

Variant	nsv876804
Chromosome Location	chr3:53833509-53934171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2829)
CpG islands
(count:3784)
Chromatin interactive
region (count:97)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2829 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:53876698-53878019	HepG2	liver:	n/a	chr3:53877014-53877030
2	ARID3A	chr3:53875409-53875638	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:53878608-53878939	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:53916095-53916159	K562	blood:	n/a	n/a
5	ARID3A	chr3:53880305-53880971	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:53925749-53926241	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:53915953-53916241	HepG2	liver:	n/a	n/a
8	ATF1	chr3:53925053-53926665	K562	blood:	n/a	n/a
9	ATF1	chr3:53885026-53885200	K562	blood:	n/a	n/a
10	ATF2	chr3:53919242-53919670	GM12878	blood:	n/a	n/a
11	ATF2	chr3:53915793-53916546	GM12878	blood:	n/a	n/a
12	ATF2	chr3:53925733-53926272	GM12878	blood:	n/a	n/a
13	ATF2	chr3:53925628-53926357	GM12878	blood:	n/a	n/a
14	ATF2	chr3:53925618-53926100	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr3:53919214-53919616	GM12878	blood:	n/a	n/a
16	ATF3	chr3:53925838-53926140	K562	blood:	n/a	n/a
17	BACH1	chr3:53925690-53926288	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr3:53925862-53926461	K562	blood:	n/a	n/a
19	BACH1	chr3:53876560-53877103	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr3:53915601-53915814	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr3:53925213-53925396	K562	blood:	n/a	n/a
22	BACH1	chr3:53879511-53879848	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr3:53850518-53850789	GM12878	blood:	n/a	n/a
24	BATF	chr3:53919318-53919618	GM12878	blood:	n/a	n/a
25	BCLAF1	chr3:53925463-53926403	GM12878	blood:	n/a	chr3:53925670-53925683 chr3:53925669-53925682
26	BCLAF1	chr3:53915471-53916369	GM12878	blood:	n/a	chr3:53915953-53915962
27	BCLAF1	chr3:53915553-53916509	GM12878	blood:	n/a	chr3:53915953-53915962
28	BCLAF1	chr3:53925490-53926439	GM12878	blood:	n/a	chr3:53925670-53925683 chr3:53925669-53925682
29	BHLHE40	chr3:53877854-53878245	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:53880224-53880527	K562	blood:	n/a	n/a
31	BHLHE40	chr3:53879719-53880817	GM12878	blood:	n/a	chr3:53880063-53880079
32	BHLHE40	chr3:53876633-53877763	HepG2	liver:	n/a	n/a
33	BHLHE40	chr3:53915760-53916144	K562	blood:	n/a	n/a
34	BHLHE40	chr3:53840974-53841053	GM12878	blood:	n/a	n/a
35	BHLHE40	chr3:53880178-53880482	HepG2	liver:	n/a	n/a
36	BHLHE40	chr3:53915640-53916724	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:53876815-53877169	HepG2	liver:	n/a	n/a
38	BHLHE40	chr3:53880154-53880774	HepG2	liver:	n/a	n/a
39	BHLHE40	chr3:53882631-53882725	GM12878	blood:	n/a	n/a
40	BHLHE40	chr3:53880315-53880471	A549	lung:	n/a	n/a
41	BHLHE40	chr3:53876853-53877464	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:53925718-53926400	GM12878	blood:	n/a	n/a
43	BHLHE40	chr3:53839195-53839556	GM12878	blood:	n/a	chr3:53839342-53839363 chr3:53839346-53839359
44	BHLHE40	chr3:53925528-53926286	K562	blood:	n/a	n/a
45	BRCA1	chr3:53915645-53915698	GM12878	blood:	n/a	n/a
46	BRCA1	chr3:53880497-53880762	HepG2	liver:	n/a	n/a
47	BRCA1	chr3:53925601-53926262	HepG2	liver:	n/a	n/a
48	BRCA1	chr3:53879626-53879935	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr3:53876900-53877389	HepG2	liver:	n/a	n/a
50	BRCA1	chr3:53915766-53915868	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3784 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53925231-53925281	PrEC	prostate:	n/a
2	chr3:53883813-53883863	HCF	heart:	n/a
3	chr3:53925231-53925281	PrEC	prostate:	n/a
4	chr3:53883813-53883863	HCF	heart:	n/a
5	chr3:53855125-53855175	SK-N-SH_RA	brain:	n/a
6	chr3:53915801-53915851	HCPEpiC	choroid plexus:	n/a
7	chr3:53925267-53925317	HCM	heart:	n/a
8	chr3:53880775-53880825	ovcar-3	ovarian:	n/a
9	chr3:53927033-53927083	GM06990	blood:	n/a
10	chr3:53878642-53878692	SAEC	small airway:	n/a
11	chr3:53925981-53926031	AoSMC	blood vessel:	n/a
12	chr3:53880717-53880767	U87	brain:	n/a
13	chr3:53860720-53860770	AG10803	skin:	n/a
14	chr3:53844172-53844222	HAEpiC	amniotic membrane:	n/a
15	chr3:53925587-53925637	HEK293	kidney:	embryo
16	chr3:53926080-53926130	A549	lung:	n/a
17	chr3:53839251-53839301	NH-A	brain:	n/a
18	chr3:53880378-53880428	GM12878	blood:	n/a
19	chr3:53883813-53883863	SKMC	muscle:	n/a
20	chr3:53880853-53880903	RPTEC	kidney:	n/a
21	chr3:53915933-53915983	SK-N-SH	brain:	n/a
22	chr3:53926047-53926097	LNCaP	prostate:	n/a
23	chr3:53926284-53926334	SAEC	small airway:	n/a
24	chr3:53916412-53916462	Jurkat	blood:	n/a
25	chr3:53926101-53926151	AoSMC	blood vessel:	n/a
26	chr3:53912235-53912285	PrEC	prostate:	n/a
27	chr3:53916135-53916185	Hela-S3	cervix:	n/a
28	chr3:53917543-53917593	PFSK-1	brain:	n/a
29	chr3:53850724-53850774	HRCEpiC	kidney:	n/a
30	chr3:53926080-53926130	PrEC	prostate:	n/a
31	chr3:53926284-53926334	PANC-1	pancreas:	n/a
32	chr3:53926101-53926151	NH-A	brain:	n/a
33	chr3:53925587-53925637	LNCaP	prostate:	n/a
34	chr3:53926598-53926648	Jurkat	blood:	n/a
35	chr3:53916412-53916462	HRE	kidney:	n/a
36	chr3:53880378-53880428	NB4	blood:	n/a
37	chr3:53880366-53880416	PANC-1	pancreas:	n/a
38	chr3:53880775-53880825	IMR90	lung:	fetal
39	chr3:53925912-53925962	Jurkat	blood:	n/a
40	chr3:53914075-53914125	GM12878	blood:	n/a
41	chr3:53925981-53926031	PFSK-1	brain:	n/a
42	chr3:53915801-53915851	Caco-2	colon:	n/a
43	chr3:53926101-53926151	Jurkat	blood:	n/a
44	chr3:53845930-53845980	PANC-1	pancreas:	n/a
45	chr3:53855125-53855175	AG09319	gingival:	n/a
46	chr3:53925831-53925881	HCF	heart:	n/a
47	chr3:53857939-53857989	PFSK-1	brain:	n/a
48	chr3:53925912-53925962	HCM	heart:	n/a
49	chr3:53926156-53926206	MCF-7	breast:	n/a
50	chr3:53857876-53857926	GM12891	blood:	n/a

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:53844168..53845668-chr3:73159088..73161601,2	K562	blood:
2	chr3:53913333..53919757-chr3:53920203..53928086,26	K562	blood:
3	chr3:53849527..53851449-chr3:53878802..53881652,2	MCF-7	breast:
4	chr3:53882366..53883990-chr3:53889340..53891284,2	MCF-7	breast:
5	chr19:1268912..1269727-chr3:53925139..53925887,2	Hela-S3	cervix:
6	chr3:53874952..53876547-chr3:53878295..53881175,2	K562	blood:
7	chr3:53908420..53912131-chr3:53913956..53917012,3	MCF-7	breast:
8	chr3:53909521..53911477-chr3:53924349..53927028,2	MCF-7	breast:
9	chr11:62609137..62610648-chr3:53844188..53845688,2	MCF-7	breast:
10	chr17:41464201..41466333-chr3:53844168..53847168,4	K562	blood:
11	chr3:53888852..53890407-chr3:53890829..53893730,2	K562	blood:
12	chr3:53914533..53916130-chr3:53934096..53936406,2	K562	blood:
13	chr3:53925577..53926163-chr6:56819278..56819811,2	Hela-S3	cervix:
14	chr11:62609135..62609723-chr3:53845168..53845688,6	HCT-116	colon:
15	chr20:30193754..30194579-chr3:53926417..53926984,2	Hela-S3	cervix:
16	chr15:34516727..34517701-chr3:53915643..53916154,2	Hela-S3	cervix:
17	chr3:53913820..53918433-chr3:53924406..53927799,6	MCF-7	breast:
18	chr3:53906924..53910795-chr3:53914021..53916121,3	MCF-7	breast:
19	chr3:53897345..53899772-chr3:53903994..53906102,2	K562	blood:
20	chr3:53866125..53868465-chr3:53874787..53877078,2	K562	blood:
21	chr3:53879984..53882560-chr3:53883892..53885609,2	K562	blood:
22	chr3:53880225..53881825-chr3:53914407..53917091,2	MCF-7	breast:
23	chr3:53844168..53847188-chr3:73158624..73161592,4	K562	blood:
24	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:
25	chr3:53889507..53891726-chr3:53914863..53916611,2	MCF-7	breast:
26	chr3:53906811..53909807-chr3:53917602..53920226,2	MCF-7	breast:
27	chr3:53841128..53843687-chr3:53845515..53847366,2	K562	blood:
28	chr10:103124630..103126130-chr3:53844188..53847168,2	K562	blood:
29	chr15:72410138..72410841-chr3:53925749..53926410,2	Hela-S3	cervix:
30	chr3:53288526..53291244-chr3:53879304..53881119,2	MCF-7	breast:
31	chr3:53889294..53893230-chr3:53913823..53917660,4	K562	blood:
32	chr3:53844590..53847374-chr3:53851329..53853049,2	K562	blood:
33	chr3:53901391..53905529-chr3:53913413..53917026,5	MCF-7	breast:
34	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
35	chr3:53906924..53910795-chr3:53914021..53916121,3	MCF-7	breast:
36	chr3:53889289..53890794-chr3:53913811..53916721,2	K562	blood:
37	chr1:160082467..160082984-chr3:53845168..53845688,2	MCF-7	breast:
38	chr3:53827199..53830305-chr3:53832365..53836212,3	MCF-7	breast:
39	chr3:53924684..53925501-chr7:135346877..135347648,2	NB4	blood:
40	chr3:53930548..53932140-chr3:53934044..53936810,2	K562	blood:
41	chr3:53925276..53928146-chr3:53932001..53933917,2	MCF-7	breast:
42	chr3:53526182..53528875-chr3:53879796..53881358,2	MCF-7	breast:
43	chr3:53846376..53848488-chr3:53854187..53856200,2	MCF-7	breast:
44	chr3:53903830..53906738-chr3:53907491..53909258,2	MCF-7	breast:
45	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:
46	chr3:53925062..53927052-chr3:53928716..53930712,2	K562	blood:
47	chr3:53908420..53912131-chr3:53913956..53917012,3	MCF-7	breast:
48	chr3:53853872..53855809-chr3:53924023..53926528,2	K562	blood:
49	chr3:53901391..53905529-chr3:53913413..53917026,5	MCF-7	breast:
50	chr11:62607628..62610723-chr3:53844168..53845688,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR8-2	chr3:53922422-53922510	NONHSAT090009
2	lnc-ACTR8-1	chr3:53893020-53895603	NONHSAT090006
3	lnc-ACTR8-1	chr3:53893021-53895603	ENSG00000271976.1
4	lnc-ACTR8-2	chr3:53925797-53925912	NONHSAT090009
5	lnc-ACTR8-3	chr3:53868060-53870643	ncRnaDb_ncrna_FR081823_1
6	lnc-ACTR8-2	chr3:53924953-53925087	NONHSAT090009
7	lnc-ACTR8-2	chr3:53922023-53922510	NONHSAT090008
8	lnc-ACTR8-2	chr3:53925797-53925882	NONHSAT090008

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ACTR8	hsa-miR-124-3p	chr3:53901405-53901424
2	IL17RB	hsa-miR-155-5p	chr3:53899480-53899502
3	ACTR8	hsa-miR-124-3p	chr3:53901411-53901405

Variant related genes	Relation type
ENSG00000113811	TF binding region
CHDH	TF binding region
ENSG00000271976	TF binding region
ACTR8	TF binding region
ENSG00000222888	TF binding region
IL17RB	TF binding region
ENSG00000271916	TF binding region
ENSG00000113811	CpG island
CHDH	CpG island
ENSG00000271976	CpG island
ACTR8	CpG island
ENSG00000222888	CpG island
IL17RB	CpG island
ENSG00000271916	CpG island
ENSG00000222888	chromatin interactions
ENSG00000113811	chromatin interactions
ENSG00000013588	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000016391	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000128463	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000151917	chromatin interactions
ENSG00000056736	chromatin interactions
ENSG00000187118	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000243317	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000163931	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000113812	chromatin interactions
ENSG00000157388	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000271976	chromatin interactions

Extended variants
information (count: 4210 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4210 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3796349	chr3:53833509-53833510	Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187047244	chr3:53833555-53833556	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540598555	chr3:53833587-53833588	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534584239	chr3:53833600-53833601	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554750921	chr3:53833601-53833602	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79626843	chr3:53833604-53833605	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs137958749	chr3:53833645-53833646	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548139566	chr3:53833655-53833656	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564764639	chr3:53833665-53833666	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557485389	chr3:53833696-53833697	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559696587	chr3:53833700-53833701	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2083126	chr3:53833709-53833710	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559451962	chr3:53833710-53833711	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573503679	chr3:53833753-53833754	Enhancers Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142451051	chr3:53833903-53833904	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562319608	chr3:53833934-53833935	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112246659	chr3:53833961-53833962	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531002622	chr3:53833964-53833965	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545279622	chr3:53833967-53833968	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549512088	chr3:53834047-53834048	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563022906	chr3:53834066-53834067	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532014831	chr3:53834072-53834073	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs59191645	chr3:53834091-53834092	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113303536	chr3:53834104-53834105	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190325478	chr3:53834115-53834116	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575553907	chr3:53834186-53834187	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111688979	chr3:53834198-53834199	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs534926531	chr3:53834233-53834234	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182970330	chr3:53834236-53834237	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs377139887	chr3:53834237-53834238	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375126952	chr3:53834244-53834245	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568306347	chr3:53834278-53834279	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150463212	chr3:53834329-53834330	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368500737	chr3:53834350-53834351	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs148898845	chr3:53834367-53834368	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147973409	chr3:53834369-53834370	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557522391	chr3:53834405-53834406	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371117221	chr3:53834406-53834407	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577429001	chr3:53834506-53834507	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73843309	chr3:53834512-53834513	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528343145	chr3:53834517-53834518	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553337329	chr3:53834583-53834584	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368431915	chr3:53834607-53834608	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188924994	chr3:53834624-53834625	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542553598	chr3:53834643-53834644	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562041255	chr3:53834651-53834652	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575461509	chr3:53834707-53834708	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs193137159	chr3:53834717-53834718	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564307391	chr3:53834757-53834758	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532079340	chr3:53834758-53834759	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3236 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53811400-53838600	Weak transcription	Spleen	Spleen
2	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:53829200-53833800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:53829200-53853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:53829600-53838200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:53830400-53839800	Weak transcription	Lung	lung
7	chr3:53830400-53851200	Weak transcription	Fetal Brain Male	brain
8	chr3:53830600-53833600	Weak transcription	Esophagus	oesophagus
9	chr3:53830600-53834000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:53830600-53834200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:53830600-53837400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:53830600-53837800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:53830600-53838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:53830600-53838600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:53830600-53838600	Weak transcription	Fetal Brain Female	brain
16	chr3:53830600-53840200	Weak transcription	Brain Angular Gyrus	brain
17	chr3:53830600-53840200	Weak transcription	Pancreas	Pancrea
18	chr3:53830800-53838200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:53830800-53838800	Weak transcription	Brain Anterior Caudate	brain
20	chr3:53830800-53840200	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:53832000-53837400	Strong transcription	Fetal Lung	lung
22	chr3:53832000-53839800	Strong transcription	Fetal Intestine Large	intestine
23	chr3:53832200-53833800	Weak transcription	Fetal Stomach	stomach
24	chr3:53832200-53838800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:53832200-53839800	Strong transcription	Fetal Intestine Small	intestine
26	chr3:53833000-53833600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:53833000-53838400	Weak transcription	Fetal Heart	heart
28	chr3:53833200-53833800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:53833400-53834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:53833400-53834800	Enhancers	NHDF-Ad	bronchial
31	chr3:53833600-53834400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:53833600-53835000	Enhancers	Esophagus	oesophagus
33	chr3:53833600-53838400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:53833600-53840800	Weak transcription	Fetal Kidney	kidney
35	chr3:53833800-53834200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:53833800-53834600	Enhancers	Fetal Stomach	stomach
37	chr3:53833800-53837600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:53834000-53834400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:53834000-53834600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr3:53834000-53834800	Enhancers	Fetal Muscle Leg	muscle
41	chr3:53834000-53834800	Enhancers	HSMMtube	muscle
42	chr3:53834200-53834800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:53834200-53834800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr3:53834200-53835200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:53834400-53834600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:53834400-53837400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:53834400-53838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:53834400-53838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:53834600-53835000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr3:53834600-53838600	Weak transcription	Placenta Amnion	Placenta Amnion

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