Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
2	chr5:127257196..127261867-chr5:127264373..127267767,5	MCF-7	breast:
3	chr5:127264889..127267722-chr5:127417761..127420462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12173092	0.93[ASN][1000 genomes]
rs6864814	0.93[ASN][1000 genomes]
rs9285909	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9327458	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127261800-127270200	Weak transcription	NHEK	skin
2	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine
3	chr5:127264200-127270400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:127266200-127270400	Weak transcription	HSMM	muscle
5	chr5:127266400-127270600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:127266600-127269800	Weak transcription	Hela-S3	cervix
7	chr5:127266600-127270000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:127266600-127270000	Weak transcription	HMEC	breast
9	chr5:127266600-127270200	Weak transcription	Osteobl	bone
10	chr5:127266600-127270400	Weak transcription	HUVEC	blood vessel
11	chr5:127266600-127270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:127266600-127270800	Weak transcription	NH-A	brain
13	chr5:127266600-127277000	Weak transcription	Aorta	Aorta
14	chr5:127266800-127270400	Weak transcription	Stomach Mucosa	stomach
15	chr5:127266800-127270400	Weak transcription	HSMMtube	muscle
16	chr5:127266800-127271200	Weak transcription	Pancreas	Pancrea
17	chr5:127267200-127269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:127267400-127270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:127267600-127268600	Weak transcription	A549	lung

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