Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:86847821..86852321-chr2:86899827..86904207,6	MCF-7	breast:
2	chr2:86745237..86746211-chr2:86902465..86903366,3	MCF-7	breast:
3	chr2:86848685..86851152-chr2:86900821..86905155,5	MCF-7	breast:
4	chr2:86902482..86903131-chr21:40176151..40176774,2	MCF-7	breast:
5	chr2:86857369..86860425-chr2:86900280..86904256,3	MCF-7	breast:
6	chr2:86745694..86746284-chr2:86902506..86903090,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10176028	0.86[ASN][1000 genomes]
rs1018311	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895434	0.91[ASN][1000 genomes]
rs12997796	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs13004867	0.85[CHB][hapmap]
rs1437615	0.97[ASN][1000 genomes]
rs34353387	0.85[CHB][hapmap];0.84[CHD][hapmap];0.84[TSI][hapmap]
rs35594332	0.85[CHB][hapmap];0.84[CHD][hapmap];0.84[TSI][hapmap]
rs4423596	0.91[ASN][1000 genomes]
rs59551477	0.86[AFR][1000 genomes]
rs6709371	0.91[ASN][1000 genomes]
rs6758373	0.97[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	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86901000-86903200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:86901000-86905200	Weak transcription	HepG2	liver
3	chr2:86901400-86903000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:86901400-86903200	Enhancers	Fetal Heart	heart
5	chr2:86901400-86916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:86901600-86903000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:86902200-86903200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:86902600-86903000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:86902600-86903000	Enhancers	Right Ventricle	heart
10	chr2:86902600-86903000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:86902600-86903000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:86902600-86903000	Enhancers	Stomach Mucosa	stomach
13	chr2:86902600-86903000	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:86902600-86903200	Enhancers	Brain Angular Gyrus	brain
15	chr2:86902600-86903200	Enhancers	Esophagus	oesophagus
16	chr2:86902600-86903200	Enhancers	Left Ventricle	heart
17	chr2:86902600-86903200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:86902800-86903000	Enhancers	Placenta	Placenta
19	chr2:86902800-86903000	Enhancers	HSMMtube	muscle
20	chr2:86902800-86903200	Enhancers	Gastric	stomach
21	chr2:86902800-86903200	Enhancers	Pancreas	Pancrea

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