Variant report

Variant	rs55657817
Chromosome Location	chr4:48231816-48231817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12504870	0.85[EUR][1000 genomes]
rs12507853	0.97[EUR][1000 genomes]
rs13103259	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13104355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121247	0.97[EUR][1000 genomes]
rs13125176	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1355218	0.97[EUR][1000 genomes]
rs17471308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574806	0.97[EUR][1000 genomes]
rs17574819	0.97[EUR][1000 genomes]
rs17574847	0.97[EUR][1000 genomes]
rs2352597	0.97[EUR][1000 genomes]
rs2457412	0.97[EUR][1000 genomes]
rs2664021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664030	0.97[EUR][1000 genomes]
rs2704391	0.97[EUR][1000 genomes]
rs2704394	0.97[EUR][1000 genomes]
rs2704403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704412	0.97[EUR][1000 genomes]
rs34292660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712902	0.97[EUR][1000 genomes]
rs35912788	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35920857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36103122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694891	0.85[EUR][1000 genomes]
rs60092950	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246007	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73817608	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7658983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663382	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7669018	0.97[EUR][1000 genomes]
rs7678247	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7678843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7698045	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9996158	0.97[EUR][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	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
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr4:48215600-48232400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
3	chr4:48222000-48235000	Weak transcription	Fetal Thymus	thymus
4	chr4:48228200-48232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48228800-48236200	Weak transcription	Primary B cells from cord blood	blood
6	chr4:48230000-48236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:48230000-48236400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:48230000-48236600	Weak transcription	Stomach Mucosa	stomach
9	chr4:48230000-48245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:48231200-48235400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:48231400-48233800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:48231400-48234600	Weak transcription	GM12878-XiMat	blood
13	chr4:48231400-48235200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:48231400-48235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:48231400-48235200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:48231400-48235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:48231800-48234400	Weak transcription	K562	blood

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