Variant report

Variant	rs10426959
Chromosome Location	chr19:55727189-55727190
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:55726972-55728957	K562	blood:	n/a	n/a
2	USF2	chr19:55726702-55728888	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr19:55726910-55727520	K562	blood:	n/a	n/a
4	RFX5	chr19:55727150-55728950	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr19:55727115-55728910	K562	blood:	n/a	n/a
6	TEAD4	chr19:55726775-55728999	K562	blood:	n/a	n/a
7	JUN	chr19:55726637-55729664	K562	blood:	n/a	chr19:55727876-55727890
8	MAX	chr19:55727042-55729016	HCT-116	colon:	n/a	chr19:55728694-55728703 chr19:55727423-55727432
9	BHLHE40	chr19:55726934-55728817	K562	blood:	n/a	n/a
10	CBX3	chr19:55726938-55728854	K562	blood:	n/a	n/a
11	JUND	chr19:55726827-55728892	Hela-S3	cervix:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
12	POLR2A	chr19:55726831-55729592	K562	blood:	n/a	n/a
13	HCFC1	chr19:55726666-55728943	Hela-S3	cervix:	n/a	n/a
14	SMARCC1	chr19:55726909-55728916	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr19:55726966-55728938	SK-N-SH	brain:	n/a	n/a
16	SP1	chr19:55727121-55729072	HCT-116	colon:	n/a	n/a
17	ZMIZ1	chr19:55726850-55728910	K562	blood:	n/a	n/a
18	ZC3H11A	chr19:55727117-55727379	K562	blood:	n/a	n/a
19	TRIM28	chr19:55727162-55728906	K562	blood:	n/a	n/a
20	FOSL1	chr19:55727067-55728932	HCT-116	colon:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
21	MYC	chr19:55726985-55728932	K562	blood:	n/a	chr19:55728694-55728703 chr19:55727423-55727432
22	JUND	chr19:55727170-55728929	HCT-116	colon:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
23	CEBPB	chr19:55727055-55728874	K562	blood:	n/a	n/a
24	BRCA1	chr19:55727189-55728825	Hela-S3	cervix:	n/a	n/a
25	USF2	chr19:55727180-55727527	HepG2	liver:	n/a	n/a
26	CUX1	chr19:55726993-55728925	K562	blood:	n/a	n/a
27	SP1	chr19:55727067-55729015	HCT-116	colon:	n/a	n/a
28	GTF2F1	chr19:55726993-55728901	Hela-S3	cervix:	n/a	n/a
29	ARID3A	chr19:55727138-55728166	K562	blood:	n/a	n/a
30	CEBPB	chr19:55727139-55728942	Hela-S3	cervix:	n/a	n/a
31	ATF3	chr19:55727142-55728854	K562	blood:	n/a	chr19:55728213-55728226
32	MAX	chr19:55727096-55729037	HCT-116	colon:	n/a	chr19:55728694-55728703 chr19:55727423-55727432
33	REST	chr19:55727100-55729601	A549	lung:	n/a	chr19:55728502-55728522 chr19:55728502-55728522 chr19:55728503-55728521 chr19:55728502-55728511 chr19:55728253-55728266 chr19:55728507-55728516 chr19:55728502-55728522 chr19:55728508-55728522 chr19:55728505-55728518
34	CEBPB	chr19:55727162-55727582	K562	blood:	n/a	n/a
35	CEBPB	chr19:55727163-55728187	K562	blood:	n/a	n/a
36	BCL3	chr19:55727173-55728916	A549	lung:	n/a	chr19:55727534-55727543 chr19:55728507-55728516
37	JUND	chr19:55727121-55729008	HCT-116	colon:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
38	MAX	chr19:55726982-55728929	K562	blood:	n/a	chr19:55728694-55728703 chr19:55727423-55727432
39	BCL3	chr19:55727063-55728875	A549	lung:	n/a	chr19:55727534-55727543 chr19:55728507-55728516
40	POLR2A	chr19:55727132-55729476	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr19:55727059-55727289	HepG2	liver:	n/a	n/a
42	RCOR1	chr19:55727025-55727489	K562	blood:	n/a	n/a
43	POLR2A	chr19:55726749-55728849	HepG2	liver:	n/a	n/a
44	JUND	chr19:55726902-55728938	K562	blood:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
45	JUN	chr19:55727178-55728628	Hela-S3	cervix:	n/a	chr19:55727876-55727890
46	TBL1XR1	chr19:55726809-55728943	K562	blood:	n/a	n/a
47	SMC3	chr19:55727080-55728890	Hela-S3	cervix:	n/a	n/a
48	EP300	chr19:55726857-55728845	Hela-S3	cervix:	n/a	chr19:55728445-55728459 chr19:55728696-55728704
49	KAP1	chr19:55727065-55728752	U2OS	brain:	n/a	n/a
50	EP300	chr19:55726979-55728948	K562	blood:	n/a	chr19:55728445-55728459 chr19:55728696-55728704

No.	Distal block	Cell Line	Cell type
1	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
2	chr19:55726024..55729916-chr19:55768850..55773519,13	MCF-7	breast:
3	chr19:55725879..55730013-chr19:55916052..55921296,12	K562	blood:
4	chr19:55723794..55727841-chr19:55908469..55911856,3	K562	blood:
5	chr19:55683524..55688236-chr19:55723837..55729899,9	K562	blood:
6	chr19:55726882..55729830-chr19:55758716..55760558,2	K562	blood:
7	chr19:55726866..55728775-chr19:55791537..55793466,2	K562	blood:
8	chr19:55726934..55728897-chr19:55951676..55953853,3	K562	blood:
9	chr19:55688567..55692973-chr19:55725028..55730023,9	K562	blood:
10	chr19:55727159..55729586-chr19:55769569..55772417,4	MCF-7	breast:
11	chr19:55723904..55730206-chr19:55894141..55899052,9	MCF-7	breast:
12	chr19:55689066..55691659-chr19:55726623..55728296,2	MCF-7	breast:
13	chr19:55723991..55730191-chr19:55895529..55902666,13	K562	blood:
14	chr19:55726786..55728358-chr19:55864550..55866363,2	K562	blood:
15	chr19:55727003..55728897-chr19:55950447..55953853,4	K562	blood:
16	chr19:55726686..55729337-chr19:55790310..55792413,2	MCF-7	breast:
17	chr19:55726173..55729345-chr19:55985956..55989855,5	K562	blood:
18	chr19:55726839..55729396-chr19:56109968..56112582,3	K562	blood:
19	chr19:55725474..55728358-chr19:55864550..55866958,2	K562	blood:
20	chr19:55676374..55679520-chr19:55726674..55730754,4	K562	blood:
21	chr19:55688544..55691824-chr19:55726439..55729589,6	K562	blood:
22	chr19:55726487..55728063-chr19:55766262..55769057,2	MCF-7	breast:
23	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
24	chr19:55725155..55730672-chr19:55787708..55794060,8	K562	blood:
25	chr19:55726436..55728514-chr19:55894954..55897683,2	MCF-7	breast:
26	chr19:55723660..55729639-chr19:55916052..55920716,13	K562	blood:
27	chr19:55656421..55658879-chr19:55726514..55729367,3	K562	blood:
28	chr19:55725965..55728542-chr19:55794758..55796322,2	K562	blood:
29	chr19:55725795..55728005-chr19:55752487..55754140,2	K562	blood:
30	chr19:55718998..55723683-chr19:55726226..55730125,7	MCF-7	breast:
31	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
32	chr19:55682890..55686413-chr19:55726859..55729575,3	K562	blood:
33	chr19:55725364..55727987-chr19:55789124..55791099,2	MCF-7	breast:
34	chr19:55726329..55730291-chr19:55739732..55743145,6	K562	blood:

Variant related genes	Relation type
ENSG00000267649	TF binding region
ENSG00000167646	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000180089	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10416908	1.00[MEX][hapmap]
rs11542503	1.00[TSI][hapmap]
rs57232155	1.00[EUR][1000 genomes]
rs7249465	1.00[EUR][1000 genomes]
rs7260246	1.00[TSI][hapmap]
rs73605177	1.00[EUR][1000 genomes]
rs73605189	1.00[EUR][1000 genomes]
rs73605193	1.00[EUR][1000 genomes]
rs73935333	1.00[EUR][1000 genomes]
rs8104220	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55722200-55728000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:55722400-55728000	Weak transcription	Pancreas	Pancrea
3	chr19:55724000-55728000	Weak transcription	Right Atrium	heart
4	chr19:55724200-55727400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:55724200-55727600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:55726800-55727400	Enhancers	Hela-S3	cervix
7	chr19:55726800-55727600	Enhancers	HepG2	liver
8	chr19:55727000-55727800	Flanking Active TSS	K562	blood

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