Variant report

Variant	rs1208621
Chromosome Location	chr10:38151946-38151947
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	chr10:38146853..38148733-chr10:38151900..38154199,2	MCF-7	breast:
2	chr10:38151841..38153631-chr10:38154577..38157511,2	K562	blood:

Variant related genes	Relation type
ENSG00000198105	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10508861	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11011371	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1208578	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1208619	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12243792	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12412402	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12413854	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12414618	0.87[EUR][1000 genomes]
rs16937571	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1735625	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17608725	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs176831	0.80[EUR][1000 genomes]
rs1779073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs200907	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs200909	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs200913	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs200914	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs200941	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178958	0.86[EUR][1000 genomes]
rs2293962	0.86[EUR][1000 genomes]
rs2472153	0.87[EUR][1000 genomes]
rs2472159	0.84[EUR][1000 genomes]
rs2474542	0.90[ASN][1000 genomes]
rs2474545	0.83[EUR][1000 genomes]
rs2474553	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2480521	0.82[EUR][1000 genomes]
rs2489166	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2504137	0.87[EUR][1000 genomes]
rs2505218	0.82[EUR][1000 genomes]
rs2738221	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2753883	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3739992	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55738335	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55742761	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59486180	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7068885	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs766362	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7895468	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9418311	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1208621	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs1208621	RP11-162G10.5	cis	Thyroid	GTEx
rs1208621	ZNF37A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38150400-38154200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:38150400-38154200	Weak transcription	HepG2	liver
3	chr10:38151000-38155400	Weak transcription	Rectal Smooth Muscle	rectum

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