Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr12:7525735-7525974	K562	blood:	n/a	chr12:7525847-7525868 chr12:7525852-7525861 chr12:7525848-7525863 chr12:7525849-7525863 chr12:7525847-7525868
2	CEBPD	chr12:7525744-7526225	K562	blood:	n/a	n/a
3	TEAD4	chr12:7525744-7526166	K562	blood:	n/a	n/a
4	RCOR1	chr12:7525857-7526164	K562	blood:	n/a	n/a
5	TBL1XR1	chr12:7525819-7526079	K562	blood:	n/a	n/a
6	POLR2A	chr12:7525787-7526075	K562	blood:	n/a	n/a
7	ARID3A	chr12:7525734-7526053	K562	blood:	n/a	n/a
8	EP300	chr12:7525816-7526120	K562	blood:	n/a	n/a
9	MAX	chr12:7525822-7526001	K562	blood:	n/a	n/a
10	MYC	chr12:7525739-7526014	K562	blood:	n/a	n/a
11	RCOR1	chr12:7525806-7526195	K562	blood:	n/a	n/a
12	GATA2	chr12:7525746-7526171	K562	blood:	n/a	n/a
13	EGR1	chr12:7525814-7526144	K562	blood:	n/a	n/a
14	TAL1	chr12:7525761-7526182	K562	blood:	n/a	n/a
15	MEF2A	chr12:7525639-7526068	K562	blood:	n/a	chr12:7525847-7525868 chr12:7525852-7525861 chr12:7525848-7525863 chr12:7525849-7525863 chr12:7525847-7525868
16	USF1	chr12:7525780-7526052	K562	blood:	n/a	n/a
17	MXI1	chr12:7525864-7526029	K562	blood:	n/a	n/a
18	BHLHE40	chr12:7525831-7526069	K562	blood:	n/a	n/a
19	GABPA	chr12:7525852-7526103	K562	blood:	n/a	n/a
20	MAX	chr12:7525755-7526190	K562	blood:	n/a	n/a
21	TEAD4	chr12:7525725-7526214	K562	blood:	n/a	n/a
22	TBL1XR1	chr12:7525861-7526046	K562	blood:	n/a	n/a
23	MYC	chr12:7525812-7526047	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:7524615..7527702-chr12:7611808..7614899,3	MCF-7	breast:
2	chr12:7521060..7523724-chr12:7524999..7527304,2	MCF-7	breast:
3	chr12:7525302..7527580-chr12:7529007..7531341,2	K562	blood:
4	chr12:7525479..7527871-chr12:7596900..7599865,2	K562	blood:

Variant related genes	Relation type
CD163L1	TF binding region
ENSG00000177675	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10845015	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3905298	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4883261	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7306824	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7958782	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350216	chr12:7432676-7604018	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7506800-7527000	Weak transcription	Placenta	Placenta
2	chr12:7520800-7526000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:7522200-7527000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:7522600-7526000	Weak transcription	K562	blood
5	chr12:7522600-7527000	Weak transcription	HepG2	liver
6	chr12:7522800-7526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:7523000-7526000	Weak transcription	NHDF-Ad	bronchial
8	chr12:7525800-7526000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:7525800-7526000	Enhancers	Spleen	Spleen

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