Variant report

Variant	rs8017455
Chromosome Location	chr14:81575454-81575455
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	chr14:81574238..81576394-chr14:81685477..81688391,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10129380	0.88[ASN][1000 genomes]
rs10133458	0.88[ASN][1000 genomes]
rs10136213	0.88[ASN][1000 genomes]
rs10141582	0.88[ASN][1000 genomes]
rs10141777	0.88[ASN][1000 genomes]
rs10142959	0.88[ASN][1000 genomes]
rs10142999	0.87[ASN][1000 genomes]
rs10143087	0.87[ASN][1000 genomes]
rs10146192	0.88[ASN][1000 genomes]
rs10146203	0.88[ASN][1000 genomes]
rs10147011	0.87[ASN][1000 genomes]
rs10147921	0.88[ASN][1000 genomes]
rs10149739	0.88[ASN][1000 genomes]
rs10149740	0.88[ASN][1000 genomes]
rs10149807	0.88[ASN][1000 genomes]
rs10149992	0.88[ASN][1000 genomes]
rs17111431	0.87[ASN][1000 genomes]
rs17111471	0.88[ASN][1000 genomes]
rs1990595	0.80[AFR][1000 genomes]
rs1990596	0.80[AFR][1000 genomes]
rs2024425	0.83[LWK][hapmap];0.80[AFR][1000 genomes]
rs2024426	0.80[AFR][1000 genomes]
rs2075174	0.87[ASN][1000 genomes]
rs2075175	0.87[ASN][1000 genomes]
rs2075176	0.87[ASN][1000 genomes]
rs2075177	0.87[ASN][1000 genomes]
rs2075178	0.88[ASN][1000 genomes]
rs2075179	0.88[ASN][1000 genomes]
rs2080306	0.83[LWK][hapmap]
rs2241119	0.87[ASN][1000 genomes]
rs2241120	0.87[ASN][1000 genomes]
rs2300529	0.88[ASN][1000 genomes]
rs2300530	0.88[ASN][1000 genomes]
rs2300531	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2300532	0.88[ASN][1000 genomes]
rs2300533	0.88[ASN][1000 genomes]
rs2300534	0.91[ASN][1000 genomes]
rs2300535	0.94[ASN][1000 genomes]
rs2371468	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs28417017	0.87[ASN][1000 genomes]
rs28599787	0.88[ASN][1000 genomes]
rs3783941	0.81[LWK][hapmap];0.80[AFR][1000 genomes]
rs3783942	0.83[LWK][hapmap];0.82[AFR][1000 genomes]
rs60447919	0.87[ASN][1000 genomes]
rs61980862	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143259	0.87[ASN][1000 genomes]
rs7143593	0.84[ASN][1000 genomes]
rs7143914	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144998	0.88[ASN][1000 genomes]
rs7145351	0.87[ASN][1000 genomes]
rs7150193	0.88[ASN][1000 genomes]
rs7158747	0.87[ASN][1000 genomes]
rs7159477	0.85[ASN][1000 genomes]
rs7160204	0.87[ASN][1000 genomes]

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	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1038949	chr14:81543590-81579896	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hair morphology	19896111	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8017455	SESN1	trans	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81538200-81593000	Weak transcription	Psoas Muscle	Psoas
2	chr14:81566400-81581200	Weak transcription	Fetal Thymus	thymus
3	chr14:81570200-81581200	Weak transcription	Pancreas	Pancrea
4	chr14:81572600-81577600	Weak transcription	Thymus	Thymus
5	chr14:81572600-81591400	Weak transcription	Liver	Liver
6	chr14:81574800-81575600	Strong transcription	Dnd41	blood

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