Variant report

Variant	rs979998
Chromosome Location	chr4:124444076-124444077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124441402..124444373-chr4:124445664..124447587,3	K562	blood:
2	chr4:124442981..124445050-chr4:124447093..124449897,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12503335	0.86[ASN][1000 genomes]
rs1452732	0.88[ASN][1000 genomes]
rs17752451	0.86[ASN][1000 genomes]
rs17809071	0.84[ASN][1000 genomes]
rs1993189	0.84[AFR][1000 genomes]
rs1993190	1.00[ASN][1000 genomes]
rs1993191	0.86[AFR][1000 genomes]
rs2014110	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2553360	0.86[ASN][1000 genomes]
rs2553363	0.86[ASN][1000 genomes]
rs2553372	0.84[ASN][1000 genomes]
rs2553373	0.84[ASN][1000 genomes]
rs2589836	0.86[ASN][1000 genomes]
rs2589865	0.86[ASN][1000 genomes]
rs2893051	0.82[ASN][1000 genomes]
rs4254791	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4254792	0.86[ASN][1000 genomes]
rs4286523	0.86[ASN][1000 genomes]
rs4365740	0.86[ASN][1000 genomes]
rs4377602	0.84[ASN][1000 genomes]
rs4400004	0.86[ASN][1000 genomes]
rs4596251	0.89[ASN][1000 genomes]
rs4833280	0.88[ASN][1000 genomes]
rs4833282	0.86[ASN][1000 genomes]
rs4833931	0.86[ASN][1000 genomes]
rs6534411	0.87[AFR][1000 genomes]
rs6534412	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534414	0.89[ASN][1000 genomes]
rs6813552	0.86[ASN][1000 genomes]
rs6832678	0.86[ASN][1000 genomes]
rs6838729	0.86[ASN][1000 genomes]
rs7694928	0.99[ASN][1000 genomes]
rs896679	0.84[AFR][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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124428000-124471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124443000-124444200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:124443200-124444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:124443200-124444200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:124443200-124444600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:124443200-124444800	Enhancers	Fetal Stomach	stomach
7	chr4:124443400-124444200	Enhancers	Fetal Kidney	kidney
8	chr4:124443600-124444600	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:124443800-124444200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:124444000-124444200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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