Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:88329323-88329695	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000249262	TF binding region
ENSG00000251716	TF binding region

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

rs_ID	r²[population]
rs28654511	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28713542	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34856449	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6826695	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827817	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7699237	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	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
3	esv3447453	chr4:88323528-88329828	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88326000-88330600	Weak transcription	K562	blood
2	chr4:88326800-88329600	Enhancers	Duodenum Mucosa	Duodenum
3	chr4:88327200-88332400	Enhancers	Fetal Intestine Small	intestine
4	chr4:88327600-88332400	Enhancers	Fetal Intestine Large	intestine
5	chr4:88327800-88330200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:88328000-88330000	Weak transcription	Stomach Mucosa	stomach
7	chr4:88328000-88331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:88328200-88330000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:88328800-88329600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr4:88329000-88329600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:88329000-88330400	Enhancers	HepG2	liver
12	chr4:88329000-88331200	Weak transcription	Fetal Lung	lung
13	chr4:88329200-88329600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:88329200-88329600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:88329200-88330800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:88329200-88331000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:88329400-88329600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:88329400-88329600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:88329400-88329800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:88329400-88330000	Enhancers	Pancreas	Pancrea
21	chr4:88329400-88332400	Enhancers	Liver	Liver

Quick Search: