Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173752920..173755740-chr2:173756262..173759255,3	K562	blood:
2	chr2:173745360..173747610-chr2:173754991..173758329,3	K562	blood:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs3754760	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754761	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754764	0.82[ASN][1000 genomes]
rs3769265	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769268	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769274	0.85[ASN][1000 genomes]
rs3769277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769278	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769280	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769281	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769286	0.82[ASN][1000 genomes]
rs3769291	0.87[EUR][1000 genomes]
rs3769294	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55759167	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55923901	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56884890	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57440334	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59080171	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73977720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977722	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73977726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977727	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73977729	1.00[EUR][1000 genomes];0.89[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173753200-173757600	Enhancers	Fetal Heart	heart
2	chr2:173754200-173758000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:173754400-173759400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:173754800-173758600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:173755000-173758800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:173755200-173757200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:173755200-173757200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:173755200-173758800	Weak transcription	Fetal Thymus	thymus
9	chr2:173756200-173758600	Enhancers	Lung	lung
10	chr2:173756400-173760800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:173756800-173757400	Enhancers	Left Ventricle	heart
12	chr2:173756800-173757600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:173756800-173757600	Enhancers	Fetal Kidney	kidney
14	chr2:173756800-173757600	Enhancers	Right Atrium	heart
15	chr2:173757000-173757200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:173757000-173757200	Enhancers	Right Ventricle	heart

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