Variant report

Variant	rs790675
Chromosome Location	chr12:121192318-121192319
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	chr12:121191123..121193615-chr12:121194473..121197241,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10774567	0.88[ASN][1000 genomes]
rs482522	0.90[ASN][1000 genomes]
rs484456	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs487912	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs488172	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs497273	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs498230	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs516649	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs516978	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs532140	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs550349	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs551087	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs551125	0.88[ASN][1000 genomes]
rs558275	0.88[ASN][1000 genomes]
rs566704	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs566994	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs568297	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs584001	0.88[ASN][1000 genomes]
rs586305	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs610578	0.90[ASN][1000 genomes]
rs620772	0.80[AMR][1000 genomes]
rs623857	0.90[ASN][1000 genomes]
rs633084	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs634850	0.88[ASN][1000 genomes]
rs6489779	0.88[ASN][1000 genomes]
rs6553	0.88[ASN][1000 genomes]
rs662284	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs662739	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs674021	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs679833	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs680303	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs683437	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs697859	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs708785	0.86[ASN][1000 genomes]
rs791210	0.81[AMR][1000 genomes];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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs790675	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
8	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
11	chr12:121191800-121192400	Weak transcription	GM12878-XiMat	blood

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