Variant report

Variant	rs12291317
Chromosome Location	chr11:119794853-119794854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119793577..119795858-chr11:119798827..119801061,2	K562	blood:
2	chr11:119793488..119796349-chr11:119804048..119806717,2	K562	blood:
3	chr11:119794302..119797063-chr11:119809954..119812840,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1073635	1.00[ASN][1000 genomes]
rs10892449	1.00[ASN][1000 genomes]
rs10892466	1.00[ASN][1000 genomes]
rs10892537	1.00[ASN][1000 genomes]
rs11217470	1.00[ASN][1000 genomes]
rs11217472	1.00[ASN][1000 genomes]
rs11217506	1.00[ASN][1000 genomes]
rs11217532	1.00[ASN][1000 genomes]
rs11600311	1.00[ASN][1000 genomes]
rs11601799	1.00[ASN][1000 genomes]
rs11607146	1.00[ASN][1000 genomes]
rs11822791	1.00[ASN][1000 genomes]
rs12361715	1.00[ASN][1000 genomes]
rs12361746	1.00[ASN][1000 genomes]
rs13377581	1.00[ASN][1000 genomes]
rs17123430	1.00[ASN][1000 genomes]
rs59471833	1.00[ASN][1000 genomes]
rs7103900	1.00[ASN][1000 genomes]
rs7104741	1.00[ASN][1000 genomes]
rs7116647	1.00[ASN][1000 genomes]
rs7130866	1.00[ASN][1000 genomes]
rs73577171	1.00[ASN][1000 genomes]
rs7931818	1.00[ASN][1000 genomes]
rs7947595	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048084	chr11:119771748-119808864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1049086	chr11:119782056-119808864	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3446608	chr11:119794793-119795065	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12291317	TMPRSS4	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119781800-119801800	Weak transcription	Stomach Mucosa	stomach
2	chr11:119782800-119800600	Weak transcription	Gastric	stomach
3	chr11:119791800-119795000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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