Variant report

Variant	rs2250583
Chromosome Location	chr15:59050382-59050383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:59050212-59050863	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr15:59050334-59050829	A549	lung:	n/a	n/a
3	ESR1	chr15:59050279-59050578	ECC-1	luminal epithelium:	n/a	chr15:59050483-59050498
4	ESR1	chr15:59050267-59050652	ECC-1	luminal epithelium:	n/a	chr15:59050483-59050498
5	CTCF	chr15:59050380-59050530	RPTEC	kidney:	n/a	n/a
6	RAD21	chr15:59050326-59050772	HepG2	liver:	n/a	n/a
7	CTCF	chr15:59050307-59050670	A549	lung:	n/a	n/a
8	CTCF	chr15:59050360-59050510	HAc	cerebellar:	n/a	n/a
9	CTCF	chr15:59050380-59050530	NB4	blood:	n/a	n/a
10	CTCF	chr15:59050374-59050710	HepG2	liver:	n/a	n/a
11	RAD21	chr15:59050356-59050723	GM12878	blood:	n/a	n/a
12	RAD21	chr15:59050365-59050700	SK-N-SH_RA	brain:	n/a	n/a
13	RAD21	chr15:59050339-59050713	ECC-1	luminal epithelium:	n/a	n/a
14	SMC3	chr15:59050376-59050712	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr15:59050360-59050510	NHLF	lung:	n/a	n/a
16	RAD21	chr15:59050378-59050710	HepG2	liver:	n/a	n/a
17	RAD21	chr15:59050208-59050887	HCT-116	colon:	n/a	n/a
18	RAD21	chr15:59050363-59050708	IMR90	lung:	n/a	n/a
19	RAD21	chr15:59050321-59050704	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr15:59049838-59050889	A549	lung:	n/a	n/a
21	SMC3	chr15:59050376-59050721	GM12878	blood:	n/a	n/a
22	ZNF143	chr15:59050359-59050696	GM12878	blood:	n/a	n/a
23	RAD21	chr15:59050294-59050820	MCF-7	breast:	n/a	n/a
24	ESR1	chr15:59050239-59050612	ECC-1	luminal epithelium:	n/a	chr15:59050483-59050498
25	RAD21	chr15:59050330-59050821	MCF-7	breast:	n/a	n/a
26	RAD21	chr15:59050216-59050858	A549	lung:	n/a	n/a
27	CTCF	chr15:59050360-59050510	BE2_C	brain:	n/a	n/a
28	ESR1	chr15:59050284-59050676	ECC-1	luminal epithelium:	n/a	chr15:59050483-59050498
29	CTCF	chr15:59050362-59050709	K562	blood:	n/a	n/a
30	ESR1	chr15:59050300-59050679	T-47D	breast:	n/a	chr15:59050483-59050498
31	CTCF	chr15:59050349-59050726	GM12878	blood:	n/a	n/a
32	CTCF	chr15:59050351-59050712	IMR90	lung:	n/a	n/a
33	CTCF	chr15:59050328-59050705	A549	lung:	n/a	n/a
34	RAD21	chr15:59050357-59050723	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59049338..59052129-chr15:59052697..59054874,3	K562	blood:
2	chr15:58520072..58520665-chr15:59050085..59050929,2	MCF-7	breast:
3	chr15:59048564..59050956-chr15:59058721..59061333,2	K562	blood:
4	chr15:58519596..58520483-chr15:59049894..59051015,4	MCF-7	breast:
5	chr15:59040723..59043595-chr15:59050173..59052716,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259173	TF binding region
ENSG00000137845	Chromatin interaction
ENSG00000200318	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12911961	0.84[AMR][1000 genomes]
rs12912003	0.84[AMR][1000 genomes]
rs383902	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs442495	0.82[AMR][1000 genomes]
rs4774310	0.81[AMR][1000 genomes]
rs507801	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572107	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs585192	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593742	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs596379	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602602	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs605928	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs640704	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494035	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6494036	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6494037	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs650366	0.81[ASN][1000 genomes]
rs653765	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59042600-59062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
3	chr15:59046400-59050400	Weak transcription	Liver	Liver
4	chr15:59047600-59052200	Weak transcription	Fetal Thymus	thymus
5	chr15:59049400-59050800	Weak transcription	A549	lung

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