Variant report

Variant	rs2537866
Chromosome Location	chr4:55546998-55546999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2237019	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2237021	0.80[EUR][1000 genomes]
rs2237023	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2282775	0.81[EUR][1000 genomes]
rs2537867	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2703461	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2703464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2855770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28729669	0.81[EUR][1000 genomes]
rs3020825	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3020827	0.88[EUR][1000 genomes]
rs3111800	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3134885	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4864919	0.88[EUR][1000 genomes]
rs6810872	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr4:55537600-55554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:55539200-55549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:55542600-55550600	Weak transcription	Lung	lung
4	chr4:55543200-55548000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:55543400-55550800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:55543600-55551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:55543800-55549400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:55544800-55547400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:55545400-55547000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:55545600-55547000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:55545600-55549200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:55545600-55549200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:55545600-55549600	Weak transcription	Fetal Thymus	thymus
14	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:55545800-55547000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:55545800-55562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:55546200-55547000	Enhancers	Fetal Brain Male	brain
18	chr4:55546200-55549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:55546400-55548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:55546800-55547800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:55546800-55551000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:55546800-55558000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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