Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56266295..56268885-chr14:56682625..56685589,2	K562	blood:
2	chr14:56259091..56261693-chr14:56268032..56271082,3	K562	blood:

Variant related genes	Relation type
ENSG00000258791	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10145326	0.90[ASN][1000 genomes]
rs11622627	0.81[AMR][1000 genomes]
rs11624516	0.81[AMR][1000 genomes]
rs12883012	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2152275	0.87[ASN][1000 genomes]
rs2184561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2342594	0.84[AMR][1000 genomes]
rs2342595	0.84[AMR][1000 genomes]
rs34186256	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34535564	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35094937	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35813917	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36112734	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36120082	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36149160	0.82[AMR][1000 genomes]
rs4340246	0.82[EUR][1000 genomes]
rs4340247	0.83[EUR][1000 genomes]
rs4465519	0.83[EUR][1000 genomes]
rs55788205	0.82[AMR][1000 genomes]
rs55837858	0.82[AMR][1000 genomes]
rs57658601	0.81[AMR][1000 genomes]
rs61977785	0.82[AMR][1000 genomes]
rs7150603	0.93[ASN][1000 genomes]
rs8012083	0.87[ASN][1000 genomes]
rs8012472	0.86[ASN][1000 genomes]
rs8012607	0.88[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56262000-56269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:56262200-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:56265600-56269600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:56266600-56269600	Weak transcription	Fetal Intestine Large	intestine
7	chr14:56266800-56269000	Weak transcription	Stomach Mucosa	stomach
8	chr14:56267000-56269800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:56267000-56270200	Enhancers	Hela-S3	cervix
10	chr14:56267200-56270600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:56267200-56271000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:56267800-56269600	Weak transcription	K562	blood
13	chr14:56268000-56269400	Weak transcription	HMEC	breast
14	chr14:56268000-56269400	Weak transcription	NHEK	skin
15	chr14:56268000-56269600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:56268000-56269600	Weak transcription	HUVEC	blood vessel
17	chr14:56268000-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:56268600-56271800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:56268800-56270800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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