Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56946187..56949626-chr11:56951175..56954538,4	K562	blood:
2	chr11:56950383..56952572-chr11:56977333..56980182,2	K562	blood:

Variant related genes	Relation type
ENSG00000183908	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11228901	1.00[AMR][1000 genomes]
rs11501564	1.00[AMR][1000 genomes]
rs12275563	1.00[AMR][1000 genomes]
rs12275655	1.00[AMR][1000 genomes]
rs12277644	1.00[AMR][1000 genomes]
rs12288446	1.00[AMR][1000 genomes]
rs12289270	1.00[AMR][1000 genomes]
rs12290460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290493	1.00[AMR][1000 genomes]
rs2860248	1.00[AMR][1000 genomes]
rs2860249	1.00[AMR][1000 genomes]
rs2860311	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2860313	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2860510	1.00[AMR][1000 genomes]
rs2957193	1.00[AMR][1000 genomes]
rs3016754	1.00[AMR][1000 genomes]
rs3017570	1.00[AMR][1000 genomes]
rs3018193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474661	1.00[AMR][1000 genomes]
rs73474667	1.00[AMR][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr11:56947800-56952000	Enhancers	Spleen	Spleen
2	chr11:56948200-56959200	Weak transcription	Gastric	stomach
3	chr11:56948400-56959400	Weak transcription	Right Atrium	heart
4	chr11:56948600-56955400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:56948800-56952200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:56948800-56953200	Enhancers	Fetal Brain Male	brain
7	chr11:56948800-56954800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:56949200-56955000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:56949400-56962600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:56950200-56951400	Weak transcription	Esophagus	oesophagus
11	chr11:56950200-56954000	Weak transcription	Lung	lung
12	chr11:56950200-56955200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:56950200-56960400	Weak transcription	Right Ventricle	heart
14	chr11:56950200-56969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:56950400-56951600	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:56950600-56951200	Active TSS	Fetal Brain Female	brain
17	chr11:56950800-56951800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
18	chr11:56951000-56951400	Enhancers	Stomach Mucosa	stomach
19	chr11:56951000-56951600	Enhancers	Fetal Stomach	stomach

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