Variant report

Variant	rs2821125
Chromosome Location	chr1:197312162-197312163
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	chr1:197311284..197313635-chr1:197316470..197319099,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10801603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10922234	0.86[CEU][hapmap]
rs12126335	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12134409	0.95[CEU][hapmap]
rs12563307	0.86[CEU][hapmap]
rs1337167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17554990	0.95[CEU][hapmap]
rs17618358	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2359151	0.84[ASN][1000 genomes]
rs2476019	0.95[CEU][hapmap]
rs2476023	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2494269	0.86[CEU][hapmap]
rs2759656	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2759661	0.95[CEU][hapmap]
rs2786098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2786100	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2786101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2786103	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2786116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2786117	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2786119	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2821107	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2821115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs2821116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs2821117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs2821132	0.95[CEU][hapmap]
rs3122635	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3122636	0.82[AMR][1000 genomes]
rs4915506	0.82[ASN][1000 genomes]
rs6428397	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs6664399	0.82[AMR][1000 genomes]
rs6685222	0.95[CEU][hapmap]
rs949571	0.94[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197299000-197323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197302400-197312800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:197310600-197312200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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