Variant report

Variant	rs7961179
Chromosome Location	chr12:124333827-124333828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124329999..124332885-chr12:124332920..124335378,2	K562	blood:
2	chr12:124332831..124334511-chr12:124351979..124354225,2	MCF-7	breast:
3	chr12:124331556..124334545-chr12:124336250..124337801,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10773040	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10773042	0.91[ASN][1000 genomes]
rs10773043	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10846560	0.80[EUR][1000 genomes]
rs10846561	0.82[CHB][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs10846563	0.92[ASN][1000 genomes]
rs10846564	0.81[GIH][hapmap]
rs10846565	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10846566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10846568	0.88[ASN][1000 genomes]
rs11057374	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11057375	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11057378	0.87[ASN][1000 genomes]
rs11057379	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11057380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11057385	0.81[ASN][1000 genomes]
rs12228611	0.89[ASN][1000 genomes]
rs1882488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1922257	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2341779	0.83[GIH][hapmap]
rs7138100	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7300162	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7314963	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7959043	0.93[ASN][1000 genomes]
rs7960854	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962016	0.93[ASN][1000 genomes]
rs7977713	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7980570	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7961179	PERP	trans	lymphoblastoid	seeQTL
rs7961179	LRRC43	cis	cerebellum	SCAN
rs7961179	TRIAP1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124326000-124341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124331400-124352800	Weak transcription	Fetal Brain Female	brain

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