Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:46448370..46452594-chr3:46456008..46460093,7	K562	blood:
2	chr3:46451682..46454304-chr3:46456370..46459250,2	K562	blood:
3	chr3:46457920..46459873-chr3:46460241..46461934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223552	Chromatin interaction
ENSG00000121797	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1140865	0.99[EUR][1000 genomes]
rs11574428	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11574429	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11574434	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11574435	0.84[EUR][1000 genomes]
rs11575821	0.95[EUR][1000 genomes]
rs2157061	0.99[EUR][1000 genomes]
rs2157062	0.97[EUR][1000 genomes]
rs2856758	0.96[EUR][1000 genomes]
rs3092960	0.86[EUR][1000 genomes]
rs3136535	0.91[EUR][1000 genomes]
rs34291293	0.94[EUR][1000 genomes]
rs34445878	0.95[EUR][1000 genomes]
rs34971514	0.94[EUR][1000 genomes]
rs35388950	0.94[EUR][1000 genomes]
rs41490645	0.91[EUR][1000 genomes]
rs4452362	0.82[EUR][1000 genomes]
rs4453882	0.80[EUR][1000 genomes]
rs57093591	0.86[EUR][1000 genomes]
rs6770674	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6782522	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6787972	0.97[EUR][1000 genomes]
rs6798291	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6808835	0.99[EUR][1000 genomes]
rs762790	0.87[EUR][1000 genomes]
rs7652037	0.95[EUR][1000 genomes]
rs916094	0.98[EUR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:46448600-46460000	Weak transcription	Gastric	stomach
3	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
5	chr3:46456800-46459200	Enhancers	Fetal Intestine Large	intestine
6	chr3:46457400-46459200	Enhancers	Dnd41	blood
7	chr3:46457400-46459600	Enhancers	Left Ventricle	heart
8	chr3:46457800-46459200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:46458000-46459400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:46458000-46459400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:46458200-46463400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:46458400-46459400	Weak transcription	Stomach Mucosa	stomach
13	chr3:46458400-46460600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:46458400-46464000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:46458600-46459200	Weak transcription	Lung	lung
16	chr3:46458600-46459400	Weak transcription	Right Ventricle	heart
17	chr3:46458600-46463800	Weak transcription	K562	blood
18	chr3:46458600-46469400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:46458800-46459200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:46458800-46461400	Enhancers	Fetal Heart	heart
21	chr3:46459000-46465600	Strong transcription	Spleen	Spleen

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