Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29522626..29525135-chr18:29528415..29529942,2	K562	blood:

Variant related genes	Relation type
ENSG00000153339	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10468902	0.85[EUR][1000 genomes]
rs1074636	0.81[EUR][1000 genomes]
rs10853415	0.86[EUR][1000 genomes]
rs10853416	0.85[EUR][1000 genomes]
rs11081730	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11662341	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12604640	0.86[EUR][1000 genomes]
rs12607426	0.83[EUR][1000 genomes]
rs12957331	0.87[EUR][1000 genomes]
rs12969126	0.86[EUR][1000 genomes]
rs1680643	0.81[EUR][1000 genomes]
rs1786764	0.83[EUR][1000 genomes]
rs35203717	0.85[EUR][1000 genomes]
rs3865397	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4513172	0.86[EUR][1000 genomes]
rs5011500	0.86[EUR][1000 genomes]
rs521491	0.83[EUR][1000 genomes]
rs549818	0.83[EUR][1000 genomes]
rs614342	0.83[EUR][1000 genomes]
rs6506944	0.82[EUR][1000 genomes]
rs6506945	0.82[EUR][1000 genomes]
rs6506946	0.87[EUR][1000 genomes]
rs675570	0.81[EUR][1000 genomes]
rs7229979	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7230326	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7237474	0.82[EUR][1000 genomes]
rs7239098	0.86[EUR][1000 genomes]
rs7239951	0.85[EUR][1000 genomes]
rs8088396	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs930018	0.83[EUR][1000 genomes]
rs9958368	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9966530	0.81[EUR][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	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29524600-29530600	Weak transcription	Brain Angular Gyrus	brain
2	chr18:29524800-29530800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:29525000-29530400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:29525000-29530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr18:29525600-29537400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr18:29525800-29530000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:29526800-29529400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:29527200-29530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:29527400-29530000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:29528200-29530200	Weak transcription	HepG2	liver
11	chr18:29528800-29530400	Weak transcription	Fetal Intestine Small	intestine
12	chr18:29528800-29530600	Weak transcription	Fetal Intestine Large	intestine
13	chr18:29528800-29533400	Weak transcription	K562	blood
14	chr18:29529200-29529800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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