Variant report

Variant	rs4865116
Chromosome Location	chr4:57398107-57398108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57331864..57334391-chr4:57396918..57398546,3	MCF-7	breast:
2	chr4:57297760..57299581-chr4:57396785..57398752,2	MCF-7	breast:
3	chr4:57332142..57335262-chr4:57394352..57398997,8	K562	blood:
4	chr4:57331783..57334990-chr4:57394745..57398997,7	K562	blood:
5	chr4:57299474..57303800-chr4:57395386..57399526,7	K562	blood:
6	chr4:57298757..57303397-chr4:57395270..57398462,7	K562	blood:
7	chr4:57396793..57399968-chr4:57400354..57402510,5	K562	blood:
8	chr4:57251883..57253946-chr4:57396755..57399062,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000157426	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000269921	Chromatin interaction
ENSG00000174780	Chromatin interaction
ENSG00000128050	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12511049	0.83[JPT][hapmap]
rs4391105	0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs4865112	0.89[ASN][1000 genomes]
rs73818121	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57396200-57398200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:57397200-57398400	Flanking Active TSS	Fetal Heart	heart
3	chr4:57397400-57398200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr4:57397400-57398400	Flanking Active TSS	K562	blood
5	chr4:57397600-57398200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:57397600-57398200	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:57397600-57398400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:57397600-57398400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:57397800-57398200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:57397800-57398200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:57397800-57410600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:57398000-57398200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:57398000-57398200	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
14	chr4:57398000-57398200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:57398000-57398200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
16	chr4:57398000-57398200	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr4:57398000-57399000	Enhancers	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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