Variant report

Variant	rs791210
Chromosome Location	chr12:121187557-121187558
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	chr12:121161643..121163742-chr12:121186483..121188547,2	MCF-7	breast:
2	chr12:121186636..121188144-chr12:121188175..121190452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10774567	0.92[ASN][1000 genomes]
rs1105416	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065286	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1151851	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1168945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1168954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1168956	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1306415	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1696363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1718211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2454729	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2649996	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2649998	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2650006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4767938	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs482522	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs484456	0.92[ASN][1000 genomes]
rs487310	0.88[CHB][hapmap]
rs487912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs488172	0.92[ASN][1000 genomes]
rs497273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs516649	0.83[ASN][1000 genomes]
rs516978	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520405	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs532140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs532703	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs550349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs551087	0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs551125	0.95[ASN][1000 genomes]
rs558275	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs564120	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs566704	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs566994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs568297	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584001	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs586305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs589699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs594507	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs597203	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs610578	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs619679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs620772	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs623857	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs634850	0.95[ASN][1000 genomes]
rs6489779	0.92[ASN][1000 genomes]
rs6553	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs662284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs662739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs679833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs683091	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs683437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs688402	0.89[CHB][hapmap]
rs694303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs697859	0.95[ASN][1000 genomes]
rs708785	0.93[ASN][1000 genomes]
rs790675	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs791707	0.88[AMR][1000 genomes];0.84[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	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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs791210	SPPL3	cis	Adipose Subcutaneous	GTEx
rs791210	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	chr12:121186200-121189200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
9	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:121187200-121189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:121187400-121189400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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