Variant report

Variant	rs55718430
Chromosome Location	chr4:48109455-48109456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48107035..48109587-chr4:48114590..48117554,2	K562	blood:

Variant related genes	Relation type
ENSG00000074966	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10007288	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13118073	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13123671	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13133062	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13138066	0.81[EUR][1000 genomes]
rs13148174	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466998	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1567218	0.81[ASN][1000 genomes]
rs34059656	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35067106	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35201668	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35494193	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35590286	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792624	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4589663	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60251898	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67723804	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6825925	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654844	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7658300	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7679010	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr4:48106000-48110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:48106000-48110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:48106000-48110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:48106000-48110800	Weak transcription	NHEK	skin
8	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:48106200-48110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:48106200-48111200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:48107200-48109600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:48107800-48109600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:48108200-48109800	Weak transcription	Primary T cells from cord blood	blood
17	chr4:48109200-48111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:48109400-48109600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:48109400-48109600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:48109400-48110200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:48109400-48111600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48109400-48111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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