Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:27496049-27497989	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:27496049-27497849	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:27496150-27496599	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr7:27496563-27496694	K562	blood:	n/a	n/a
5	POLR2A	chr7:27495966-27497906	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:27496211-27497010	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:27496028-27498112	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:27495989-27497907	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:27496089-27496884	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:27496018-27497936	GM12892	blood:	n/a	n/a
11	POLR2A	chr7:27496017-27497828	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:27496017-27498026	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:27495945-27498093	GM12892	blood:	n/a	n/a
14	HEY1	chr7:27496206-27496629	K562	blood:	n/a	n/a
15	POLR2A	chr7:27496096-27496602	GM12891	blood:	n/a	n/a
16	CTCF	chr7:27496560-27496710	HPAF	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-15	chr7:27495996-27496998	ENSG00000248357

Variant related genes	Relation type
PSMC1P2	TF binding region

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10242634	0.90[ASN][1000 genomes]
rs10252511	0.94[ASN][1000 genomes]
rs10252636	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10269160	0.92[ASN][1000 genomes]
rs10272561	0.88[ASN][1000 genomes]
rs10276795	0.94[ASN][1000 genomes]
rs1112620	0.94[ASN][1000 genomes]
rs11563570	0.83[EUR][1000 genomes]
rs12537577	0.85[AMR][1000 genomes]
rs12537579	0.82[AMR][1000 genomes]
rs1524522	0.94[ASN][1000 genomes]
rs1989910	0.81[ASN][1000 genomes]
rs2074340	0.92[ASN][1000 genomes]
rs2074341	0.88[ASN][1000 genomes]
rs28361576	0.92[EUR][1000 genomes]
rs28418930	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28625460	0.94[ASN][1000 genomes]
rs3915086	0.94[ASN][1000 genomes]
rs3915089	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4141138	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4722700	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4722702	0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs4722706	0.89[ASN][1000 genomes]
rs4722707	0.94[ASN][1000 genomes]
rs56843699	0.94[ASN][1000 genomes]
rs62454789	0.93[ASN][1000 genomes]
rs62454790	0.93[ASN][1000 genomes]
rs6953785	0.88[ASN][1000 genomes]
rs757141	0.81[ASN][1000 genomes]
rs7786854	0.91[ASN][1000 genomes]
rs9691111	0.81[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	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27494200-27496800	Weak transcription	NH-A	brain
2	chr7:27494200-27497000	Weak transcription	Osteobl	bone
3	chr7:27494200-27498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:27494200-27498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:27494200-27498400	Weak transcription	Adipose Nuclei	Adipose
6	chr7:27494200-27498400	Weak transcription	NHLF	lung
7	chr7:27494200-27498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:27494400-27498600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:27494400-27498600	Weak transcription	NHDF-Ad	bronchial
10	chr7:27494600-27497000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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