Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr5:127266949-127267398	HEK293-T-REx	kidney:	n/a	n/a
2	MAFK	chr5:127267119-127267445	HepG2	liver:	n/a	chr5:127267294-127267305 chr5:127267289-127267304
3	MAFK	chr5:127267195-127267373	Hela-S3	cervix:	n/a	chr5:127267294-127267305 chr5:127267289-127267304
4	MAFK	chr5:127267127-127267464	HepG2	liver:	n/a	chr5:127267294-127267305 chr5:127267289-127267304
5	MAFF	chr5:127267143-127267462	HepG2	liver:	n/a	n/a

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:

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12173092	0.90[EUR][1000 genomes]
rs34158027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35454950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35941177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864814	0.91[EUR][1000 genomes]
rs72792241	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72792242	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7702027	0.87[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:21 , 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	chr5:127265400-127267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:127266200-127270400	Weak transcription	HSMM	muscle
6	chr5:127266400-127267400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:127266400-127270600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:127266600-127269800	Weak transcription	Hela-S3	cervix
9	chr5:127266600-127270000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:127266600-127270000	Weak transcription	HMEC	breast
11	chr5:127266600-127270200	Weak transcription	Osteobl	bone
12	chr5:127266600-127270400	Weak transcription	HUVEC	blood vessel
13	chr5:127266600-127270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:127266600-127270800	Weak transcription	NH-A	brain
15	chr5:127266600-127277000	Weak transcription	Aorta	Aorta
16	chr5:127266800-127267600	Enhancers	A549	lung
17	chr5:127266800-127270400	Weak transcription	Stomach Mucosa	stomach
18	chr5:127266800-127270400	Weak transcription	HSMMtube	muscle
19	chr5:127266800-127271200	Weak transcription	Pancreas	Pancrea
20	chr5:127267200-127267400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr5:127267200-127269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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