Variant report

Variant	rs16875758
Chromosome Location	chr5:77974974-77974975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:77945458..77947369-chr5:77973307..77975636,2	K562	blood:
2	chr5:77965207..77967827-chr5:77972242..77975221,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59186457	1.00[AMR][1000 genomes]
rs6859426	1.00[AMR][1000 genomes]
rs6883470	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv528833	chr5:77937453-78016860	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1025673	chr5:77972481-78465489	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77971200-77975600	Enhancers	Fetal Intestine Large	intestine
2	chr5:77971400-77975200	Enhancers	Fetal Muscle Leg	muscle
3	chr5:77972200-77977000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:77972600-77975000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:77972600-77975000	Enhancers	Placenta	Placenta
6	chr5:77972600-77975000	Enhancers	Ovary	ovary
7	chr5:77972600-77975200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:77972800-77975200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:77973200-77975000	Enhancers	NH-A	brain
10	chr5:77973200-77975200	Enhancers	NHLF	lung
11	chr5:77973200-77975600	Enhancers	NHDF-Ad	bronchial
12	chr5:77973400-77975000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:77973400-77975200	Enhancers	HMEC	breast
14	chr5:77973400-77975600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:77973400-77975600	Enhancers	A549	lung
16	chr5:77973600-77975000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:77973600-77975200	Enhancers	NHEK	skin
18	chr5:77973600-77975600	Enhancers	Hela-S3	cervix
19	chr5:77973800-77986400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:77974200-77975600	Enhancers	K562	blood
21	chr5:77974600-77975000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:77974600-77975000	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:77974600-77975200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:77974600-77975600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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