Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:86847821..86852321-chr2:86899827..86904207,6	MCF-7	breast:
2	chr2:86848186..86849985-chr2:86897353..86900305,2	MCF-7	breast:
3	chr2:86895644..86897358-chr2:86897383..86900357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10186663	0.82[MEX][hapmap]
rs10201422	0.82[MEX][hapmap]
rs10209550	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049458	0.82[MEX][hapmap]
rs1193	0.82[MEX][hapmap]
rs12105036	1.00[CHD][hapmap]
rs13010845	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400032	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218061	0.81[EUR][1000 genomes]
rs2271666	0.91[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2367378	0.82[MEX][hapmap]
rs28527279	0.93[CEU][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs308917	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs308918	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832049	1.00[CHB][hapmap];0.88[MEX][hapmap]
rs4832307	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547705	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs6705448	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs6726451	0.82[MEX][hapmap]
rs6750263	1.00[ASN][1000 genomes]
rs938486	0.81[MEX][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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86892000-86901200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:86898200-86901000	Enhancers	HepG2	liver
3	chr2:86898400-86900600	Enhancers	Fetal Intestine Large	intestine
4	chr2:86898600-86900400	Enhancers	Fetal Intestine Small	intestine
5	chr2:86898800-86902600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:86898800-86902600	Weak transcription	Right Ventricle	heart
7	chr2:86899000-86900000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:86899000-86901000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:86899000-86901200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:86899000-86901400	Weak transcription	Fetal Heart	heart
11	chr2:86899000-86902600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:86899000-86902800	Weak transcription	Gastric	stomach
13	chr2:86899200-86902600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:86899600-86900400	Weak transcription	Left Ventricle	heart
15	chr2:86899600-86900600	Weak transcription	Placenta	Placenta
16	chr2:86899600-86902600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:86899600-86902600	Weak transcription	Stomach Mucosa	stomach
18	chr2:86899600-86902800	Weak transcription	Pancreas	Pancrea

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