Variant report

Variant	rs4871417
Chromosome Location	chr8:124898469-124898470
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	chr8:124892135..124894799-chr8:124896758..124899009,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11987138	0.86[JPT][hapmap]
rs11993828	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs13252473	0.92[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13260693	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13277597	1.00[CEU][hapmap];0.81[JPT][hapmap];0.99[EUR][1000 genomes]
rs13280610	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16893054	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs16899008	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16899027	1.00[CEU][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16899029	1.00[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34512633	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34943415	0.98[EUR][1000 genomes]
rs35367669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35444607	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4285467	0.92[CEU][hapmap]
rs4285468	0.92[CEU][hapmap];0.91[TSI][hapmap]
rs4355755	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4472497	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4478556	0.92[CEU][hapmap];0.91[TSI][hapmap]
rs4509302	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4537289	0.92[CEU][hapmap];0.91[TSI][hapmap]
rs4587311	0.92[CEU][hapmap];0.91[TSI][hapmap]
rs4596635	0.82[JPT][hapmap]
rs4870873	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4870874	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4870875	1.00[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4870879	0.92[CEU][hapmap]
rs4871421	1.00[CEU][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871422	1.00[CEU][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4871424	0.82[JPT][hapmap]
rs4871425	0.82[JPT][hapmap]
rs4871426	0.82[JPT][hapmap]
rs66846856	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67648121	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7005131	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs746745	0.81[EUR][1000 genomes]
rs746746	0.81[EUR][1000 genomes]
rs746747	0.92[CEU][hapmap];0.83[CHD][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7821233	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs7822699	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7826291	0.92[CEU][hapmap]
rs7837892	0.86[JPT][hapmap]
rs7838437	0.91[CEU][hapmap]
rs7839570	0.95[EUR][1000 genomes];0.83[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	nsv6374	chr8:124854157-124899409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871417	TATDN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124895000-124907000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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