Variant report

Variant	rs10032122
Chromosome Location	chr4:88336387-88336388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88335741..88338159-chr4:88341487..88345054,3	MCF-7	breast:
2	chr4:88331501..88333304-chr4:88334712..88337040,2	MCF-7	breast:
3	chr4:88331097..88333648-chr4:88336348..88339315,3	K562	blood:

Variant related genes	Relation type
ENSG00000170502	Chromatin interaction
ENSG00000249262	Chromatin interaction
ENSG00000251716	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10000196	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023606	0.95[ASN][1000 genomes]
rs10024781	0.92[ASN][1000 genomes]
rs10030035	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10084883	0.95[ASN][1000 genomes]
rs12640451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640894	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648665	0.95[EUR][1000 genomes]
rs12650763	0.95[ASN][1000 genomes]
rs12651034	0.95[ASN][1000 genomes]
rs28366407	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28415220	0.91[ASN][1000 genomes]
rs28437709	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28493315	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28493566	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28529046	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28535549	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696943	0.88[ASN][1000 genomes]
rs28712618	0.95[ASN][1000 genomes]
rs28718986	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28762371	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28805573	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34027531	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4411944	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55824708	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56153912	0.97[ASN][1000 genomes]
rs58192677	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67121411	0.94[ASN][1000 genomes]
rs68045074	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652067	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665115	0.95[ASN][1000 genomes]
rs7673763	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7677249	0.95[ASN][1000 genomes]
rs7680878	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7690728	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9995987	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9998212	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10032122	HSD17B11	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88329600-88342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:88331800-88336600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:88331800-88340400	Weak transcription	Stomach Mucosa	stomach
4	chr4:88332000-88336400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:88332400-88337000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:88332400-88339400	Weak transcription	Fetal Intestine Large	intestine
7	chr4:88334600-88342800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:88335600-88337400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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