Variant report

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234681368-234681552	GM12878	blood:	n/a	n/a
2	CTCF	chr2:234681286-234681549	IMR90	lung:	n/a	n/a
3	CTCF	chr2:234681320-234681470	HPAF	blood vessel:	n/a	n/a
4	RAD21	chr2:234681290-234681585	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr2:234681402-234681498	GM12878	blood:	n/a	n/a
6	CTCF	chr2:234681369-234681524	LNCaP	prostate:	n/a	n/a
7	CTCF	chr2:234681300-234681450	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr2:234681414-234681436	Kidney_OC	kidney:	n/a	n/a
9	RAD21	chr2:234681311-234681510	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:234681335-234681530	LNCaP	prostate:	n/a	n/a
11	CTCF	chr2:234681320-234681470	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr2:234681360-234681510	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr2:234681340-234681490	AoAF	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234671110..234672927-chr2:234679739..234682197,2	K562	blood:

No data

Variant related genes	Relation type
MROH2A	TF binding region

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10199525	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1042640	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929304	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11903524	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1500482	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1587493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4663972	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs6431631	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.97[ASN][1000 genomes]
rs6431632	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6431633	0.97[ASN][1000 genomes]
rs7583811	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7596785	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.97[ASN][1000 genomes]
rs8330	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10929303	SP100	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234669200-234683800	Weak transcription	Gastric	stomach
2	chr2:234672800-234685400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234673800-234681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:234673800-234683800	Weak transcription	Colonic Mucosa	Colon
5	chr2:234675400-234682400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234675600-234683600	Weak transcription	A549	lung
7	chr2:234676200-234682000	Strong transcription	Liver	Liver
8	chr2:234678400-234683800	Weak transcription	Esophagus	oesophagus
9	chr2:234678600-234684000	Weak transcription	NHEK	skin
10	chr2:234680200-234683800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:234680600-234681600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:234680800-234681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:234680800-234681600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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