Variant report

Variant	rs7740965
Chromosome Location	chr6:166718335-166718336
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	chr6:166718072..166719641-chr6:166743205..166745434,2	K562	blood:
2	chr6:166709970..166712406-chr6:166716038..166718668,2	K562	blood:

Variant related genes	Relation type
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10455809	0.83[AMR][1000 genomes]
rs10946152	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10946158	0.89[AMR][1000 genomes]
rs11752886	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12198613	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12209616	0.81[EUR][1000 genomes]
rs12214281	0.89[AMR][1000 genomes]
rs12214812	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12662920	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12662924	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1599841	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2294333	0.81[AMR][1000 genomes]
rs2294334	0.81[AMR][1000 genomes]
rs2294335	0.81[AMR][1000 genomes]
rs4144886	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4144887	0.81[EUR][1000 genomes]
rs4144888	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55936781	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59337176	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68016351	0.83[EUR][1000 genomes]
rs6932631	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6938819	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73263155	0.83[EUR][1000 genomes]
rs73788236	0.83[EUR][1000 genomes]
rs7753161	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7771603	0.81[AMR][1000 genomes]
rs9348115	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9348116	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs941683	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs999234	0.91[AMR][1000 genomes];0.95[EUR][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	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv886935	chr6:166704744-166726566	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886936	chr6:166714024-166731289	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7740965	SFT2D1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166715600-166719400	Enhancers	Brain Hippocampus Middle	brain
2	chr6:166716600-166719200	Weak transcription	Liver	Liver
3	chr6:166717000-166720200	Weak transcription	Pancreas	Pancrea
4	chr6:166717600-166718600	Enhancers	Brain Angular Gyrus	brain
5	chr6:166717600-166719000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
6	chr6:166717600-166719200	Enhancers	Brain Substantia Nigra	brain
7	chr6:166717800-166719200	Enhancers	Brain Anterior Caudate	brain
8	chr6:166718200-166719200	Weak transcription	Brain Cingulate Gyrus	brain

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