Variant report

Variant	rs4426498
Chromosome Location	chr2:184896130-184896131
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	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10182369	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10205626	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10803970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931114	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679888	0.98[ASN][1000 genomes]
rs11883925	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11885117	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11901460	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12693364	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693365	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693366	0.97[ASN][1000 genomes]
rs12693367	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12988863	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13393610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34503929	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4302188	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4383293	0.98[ASN][1000 genomes]
rs4399682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4433961	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4497837	0.98[ASN][1000 genomes]
rs4666647	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4666955	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6434056	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434057	0.99[ASN][1000 genomes]
rs6752003	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7585368	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598857	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002074	chr2:184697897-184955330	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv997475	chr2:184828307-184993186	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv583991	chr2:184855828-184954425	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv459975	chr2:184863746-184901392	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv583992	chr2:184863746-184901392	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184883800-184911600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:184888000-184896600	Weak transcription	GM12878-XiMat	blood
3	chr2:184895000-184896600	Enhancers	Fetal Lung	lung
4	chr2:184895000-184897000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:184895200-184896800	Enhancers	Fetal Heart	heart
6	chr2:184895800-184896400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:184895800-184896400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:184895800-184896600	Enhancers	Fetal Stomach	stomach
9	chr2:184895800-184896600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:184895800-184896800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:184895800-184896800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:184895800-184897000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:184895800-184897000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:184896000-184897000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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