Variant report

Variant	rs57998976
Chromosome Location	chr2:7421860-7421861
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7413774..7415680-chr2:7420486..7422433,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10205728	0.86[ASN][1000 genomes]
rs10929475	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929476	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11678656	0.86[ASN][1000 genomes]
rs11884068	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11884070	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886727	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11901709	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12473073	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12473177	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12473199	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12478133	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12990139	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13007576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13013561	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025095	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13405590	0.86[ASN][1000 genomes]
rs1430298	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866052	0.85[ASN][1000 genomes]
rs16866054	0.87[ASN][1000 genomes]
rs2013746	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4668534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668535	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669173	0.85[ASN][1000 genomes]
rs4669175	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6707908	0.87[ASN][1000 genomes]
rs6756373	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1006240	chr2:7408292-7664557	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535578	chr2:7408292-7664557	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7400200-7428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:7419200-7425400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:7421000-7422200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:7421000-7422400	Enhancers	Fetal Brain Male	brain
5	chr2:7421000-7422400	Enhancers	Fetal Brain Female	brain
6	chr2:7421200-7422000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:7421200-7422000	Enhancers	Fetal Lung	lung
8	chr2:7421200-7422400	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:7421400-7422000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:7421400-7422000	Enhancers	Fetal Stomach	stomach
11	chr2:7421400-7422000	Enhancers	Pancreas	Pancrea
12	chr2:7421400-7422400	Enhancers	Fetal Thymus	thymus
13	chr2:7421800-7422000	Enhancers	Thymus	Thymus
14	chr2:7421800-7424600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:7421800-7424800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:7421800-7429800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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