Variant report

Variant	rs1422444
Chromosome Location	chr5:128114022-128114023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1012263	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11742783	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13156561	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13169119	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13181669	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13190353	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1422447	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35111151	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882836	chr5:127999225-128136519	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128112600-128114200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr5:128112600-128114600	Enhancers	HUVEC	blood vessel
3	chr5:128112600-128114800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:128112600-128115400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:128112800-128114800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:128112800-128115000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:128112800-128115400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:128112800-128115400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:128113200-128114200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:128113600-128114200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:128113600-128114200	Enhancers	NH-A	brain
12	chr5:128113600-128114400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:128113600-128114600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:128113600-128114800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:128113600-128115000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:128113800-128114200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:128113800-128114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:128114000-128114200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:128114000-128114400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:128114000-128115000	Enhancers	Muscle Satellite Cultured Cells	--

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