Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:160926575..160929147-chr3:160933647..160936135,2	MCF-7	breast:
2	chr3:160926864..160930138-chr3:160930541..160935617,4	K562	blood:
3	chr3:160932675..160935542-chr3:160975472..160977359,2	K562	blood:
4	chr3:160932526..160936178-chr3:160936820..160939215,4	K562	blood:
5	chr3:160932849..160935746-chr3:161089870..161091599,2	MCF-7	breast:
6	chr3:160932923..160934841-chr3:160936654..160938320,2	K562	blood:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction
ENSG00000169251	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12631095	1.00[EUR][1000 genomes]
rs12631808	1.00[EUR][1000 genomes]
rs12632351	0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[EUR][1000 genomes]
rs12632632	1.00[EUR][1000 genomes]
rs12632686	1.00[EUR][1000 genomes]
rs12634006	0.85[CHD][hapmap]
rs12634108	1.00[EUR][1000 genomes]
rs12634781	1.00[EUR][1000 genomes]
rs12635895	1.00[EUR][1000 genomes]
rs12636473	1.00[EUR][1000 genomes]
rs12639236	1.00[EUR][1000 genomes]
rs34868645	1.00[EUR][1000 genomes]
rs55914832	1.00[EUR][1000 genomes]
rs56230831	1.00[EUR][1000 genomes]
rs56378191	1.00[EUR][1000 genomes]
rs57175632	1.00[EUR][1000 genomes]
rs57212203	1.00[EUR][1000 genomes]
rs57649180	1.00[EUR][1000 genomes]
rs58013864	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58404146	1.00[EUR][1000 genomes]
rs58550445	1.00[EUR][1000 genomes]
rs60172527	1.00[EUR][1000 genomes]
rs61560039	1.00[EUR][1000 genomes]
rs61631170	1.00[EUR][1000 genomes]
rs61693724	1.00[EUR][1000 genomes]
rs6773475	1.00[EUR][1000 genomes]
rs6774622	1.00[EUR][1000 genomes]
rs72494862	1.00[EUR][1000 genomes]
rs72494864	1.00[EUR][1000 genomes]
rs73021435	1.00[EUR][1000 genomes]
rs73875444	1.00[EUR][1000 genomes]
rs73875481	1.00[EUR][1000 genomes]
rs73875497	1.00[EUR][1000 genomes]
rs73878306	1.00[EUR][1000 genomes]
rs73878333	1.00[EUR][1000 genomes]
rs873183	0.85[CHD][hapmap]

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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	98 gene(s)	inside rSNPs	diseases
2	nsv1015063	chr3:160918307-161024070	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160926000-160938400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:160931000-160938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:160931400-160935200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:160931800-160937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:160931800-160938400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:160932800-160933800	Enhancers	HepG2	liver
7	chr3:160933200-160939000	Weak transcription	Gastric	stomach
8	chr3:160933400-160938600	Weak transcription	Stomach Mucosa	stomach
9	chr3:160933600-160934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:160933600-160938400	Weak transcription	Fetal Intestine Large	intestine

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