Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr4:88330268-88331081	HepG2	liver:	n/a	n/a
2	KAP1	chr4:88330302-88332262	HEK293	kidney:	n/a	n/a
3	KAP1	chr4:88330287-88332199	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88329509..88332282-chr4:88332311..88334966,2	MCF-7	breast:
2	chr4:88330031..88331610-chr4:88342950..88345346,2	K562	blood:

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28654511	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28713542	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34856449	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6827817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688038	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7699237	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88326000-88330600	Weak transcription	K562	blood
2	chr4:88327200-88332400	Enhancers	Fetal Intestine Small	intestine
3	chr4:88327600-88332400	Enhancers	Fetal Intestine Large	intestine
4	chr4:88328000-88331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:88329000-88330400	Enhancers	HepG2	liver
6	chr4:88329000-88331200	Weak transcription	Fetal Lung	lung
7	chr4:88329200-88330800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:88329200-88331000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:88329400-88332400	Enhancers	Liver	Liver
10	chr4:88329600-88330600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:88329600-88331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:88329600-88342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:88330000-88330600	Enhancers	A549	lung
14	chr4:88330000-88331000	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:88330000-88331000	Weak transcription	Pancreas	Pancrea
16	chr4:88330000-88331400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr4:88330000-88331800	Enhancers	Stomach Mucosa	stomach
18	chr4:88330200-88330600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:88330200-88332200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:88330200-88332400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

Quick Search: