Variant report

Variant	rs1470680
Chromosome Location	chr8:51224361-51224362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10101137	0.86[EUR][1000 genomes]
rs10504100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10504106	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs1117213	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11782140	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12156091	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12540980	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs12541382	0.82[JPT][hapmap]
rs12541707	1.00[JPT][hapmap]
rs12544425	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs12545003	0.83[CEU][hapmap]
rs12547038	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547242	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12548399	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12548940	0.82[YRI][hapmap]
rs13257386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs13257851	0.83[CEU][hapmap]
rs13260506	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs13261341	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs13282203	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1450131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1450136	1.00[CHB][hapmap]
rs1466128	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1481471	0.83[CEU][hapmap]
rs1548073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1597432	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1597433	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs16914780	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17769846	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1947254	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2044777	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044778	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28669842	0.87[EUR][1000 genomes]
rs2957598	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2957599	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34113623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34365466	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34530560	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894781	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4147344	0.81[CEU][hapmap]
rs4242460	0.87[EUR][1000 genomes]
rs4256602	0.81[CEU][hapmap]
rs4263785	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs4339654	0.83[CEU][hapmap]
rs4379460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs4410921	0.81[CEU][hapmap]
rs4534138	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4873453	0.86[EUR][1000 genomes]
rs62517613	0.87[EUR][1000 genomes]
rs62517614	0.87[EUR][1000 genomes]
rs7005672	0.83[CEU][hapmap]
rs7015950	0.83[CEU][hapmap]
rs7820992	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7839253	0.83[CEU][hapmap]
rs896023	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs930671	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][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	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470212	chr8:51176635-51227506	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv6185	chr8:51213648-51237196	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3420535	chr8:51223299-51227997	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51223400-51224800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:51223400-51225000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51223600-51224400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51223800-51224600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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