Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:99346491..99349928-chr2:99402977..99407960,4	MCF-7	breast:
2	chr2:99402708..99406014-chr2:99411806..99414792,3	MCF-7	breast:
3	chr2:99398566..99401288-chr2:99403710..99406748,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction
ENSG00000201070	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12232948	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12611496	0.80[ASN][1000 genomes]
rs12611969	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs12612736	0.86[AMR][1000 genomes]
rs12614153	0.96[AMR][1000 genomes]
rs12615518	0.96[AMR][1000 genomes]
rs12616060	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs12616866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12617554	1.00[AMR][1000 genomes]
rs12619244	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12620812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12622254	0.96[AMR][1000 genomes]
rs12622445	1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12623022	0.90[AMR][1000 genomes]
rs12623171	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs12623172	0.93[AMR][1000 genomes]
rs12623472	0.96[AMR][1000 genomes]
rs17021968	0.82[AMR][1000 genomes]
rs2871242	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56943554	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57480100	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61419135	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61552487	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61604726	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6760422	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72958631	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7557719	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs868921	1.00[CHB][hapmap];0.90[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
2	chr2:99391600-99406600	Weak transcription	Thymus	Thymus
3	chr2:99401800-99412800	Weak transcription	Gastric	stomach
4	chr2:99403400-99412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:99403800-99404600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:99403800-99405000	Enhancers	HepG2	liver
7	chr2:99404000-99406000	Enhancers	Fetal Thymus	thymus
8	chr2:99404200-99404600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:99404200-99404600	Enhancers	Pancreas	Pancrea
10	chr2:99404200-99404800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:99404400-99404600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:99404400-99404600	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:99404400-99410400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:99404400-99417200	Weak transcription	Stomach Mucosa	stomach

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