Variant report

Variant	rs1423225
Chromosome Location	chr5:36282710-36282711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36281575..36283798-chr5:36285246..36288597,3	K562	blood:

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

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

rs_ID	r²[population]
rs10039862	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035480	0.81[CHB][hapmap]
rs10512637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737962	0.80[CHB][hapmap]
rs10805612	0.81[CHB][hapmap]
rs1118442	0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12697356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345776	0.80[CHB][hapmap]
rs1363843	0.83[CHB][hapmap]
rs1423223	0.81[CHB][hapmap]
rs1423224	0.81[CHB][hapmap]
rs1423226	0.80[CHB][hapmap]
rs1500224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862544	0.81[CHB][hapmap]
rs2362978	0.81[CHB][hapmap]
rs2362980	0.81[CHB][hapmap]
rs2363034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33663	0.81[CHB][hapmap]
rs4869635	0.81[CHB][hapmap]
rs6451269	0.81[CHB][hapmap]
rs6451270	0.81[CHB][hapmap]
rs6869599	0.80[CHB][hapmap]
rs6874389	0.81[CHB][hapmap]
rs6881086	0.81[CHB][hapmap]
rs6886098	0.81[CHB][hapmap]
rs6892199	0.81[CHB][hapmap]
rs716636	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs716637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705209	0.81[CHB][hapmap]
rs7705985	0.85[CHB][hapmap]
rs7724057	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv881598	chr5:36248752-36382802	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36262800-36283800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:36274800-36282800	Weak transcription	Brain Anterior Caudate	brain
3	chr5:36281800-36282800	Weak transcription	Fetal Brain Male	brain
4	chr5:36281800-36283000	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:36281800-36283000	Enhancers	Brain Substantia Nigra	brain
6	chr5:36282000-36283000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:36282200-36283000	Enhancers	Aorta	Aorta
8	chr5:36282200-36284200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:36282600-36283000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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