Variant report

Variant	rs12536698
Chromosome Location	chr7:127247022-127247023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127234161..127236523-chr7:127245499..127248332,3	K562	blood:
2	chr7:127227713..127229933-chr7:127246755..127249445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004059	Chromatin interaction
ENSG00000106328	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10487484	0.85[ASN][1000 genomes]
rs10487494	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs12706803	0.92[ASN][1000 genomes]
rs13227138	0.85[ASN][1000 genomes]
rs13235029	0.92[ASN][1000 genomes]
rs13244426	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs13247976	1.00[ASN][1000 genomes]
rs13309235	0.85[ASN][1000 genomes]
rs1419408	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17660187	1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs17662800	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17718364	0.81[AFR][1000 genomes]
rs17730185	0.82[ASN][1000 genomes]
rs17730294	0.82[ASN][1000 genomes]
rs182750	0.81[EUR][1000 genomes]
rs2272374	1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs33973710	0.96[ASN][1000 genomes]
rs34121113	0.92[ASN][1000 genomes]
rs34188289	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34195583	0.92[ASN][1000 genomes]
rs34211107	1.00[ASN][1000 genomes]
rs34365152	1.00[ASN][1000 genomes]
rs34388330	1.00[ASN][1000 genomes]
rs34599926	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34814259	0.92[ASN][1000 genomes]
rs34844752	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34881339	0.85[ASN][1000 genomes]
rs35120956	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35144279	0.92[ASN][1000 genomes]
rs35528098	1.00[ASN][1000 genomes]
rs35640048	0.82[ASN][1000 genomes]
rs35872516	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs36046498	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3752619	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs3757785	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3808111	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3808115	1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs58451280	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62468943	1.00[ASN][1000 genomes]
rs62481380	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62481384	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62483172	1.00[ASN][1000 genomes]
rs6957054	0.92[ASN][1000 genomes]
rs6964793	1.00[ASN][1000 genomes]
rs746238	1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7808161	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7811506	0.96[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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12536698	ARF5	cis	parietal	SCAN
rs12536698	LRRC4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127232200-127248200	Weak transcription	Spleen	Spleen
2	chr7:127241400-127248000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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