Variant report

Variant	rs4129608
Chromosome Location	chr9:18327215-18327216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11789735	0.83[EUR][1000 genomes]
rs11790578	0.80[EUR][1000 genomes]
rs11792115	0.83[EUR][1000 genomes]
rs11792893	0.83[EUR][1000 genomes]
rs11999378	0.84[EUR][1000 genomes]
rs12005661	0.98[AFR][1000 genomes]
rs17201892	0.83[EUR][1000 genomes]
rs17202079	0.82[EUR][1000 genomes]
rs17791003	0.88[EUR][1000 genomes]
rs4351499	0.87[EUR][1000 genomes]
rs4366171	0.92[EUR][1000 genomes]
rs4514085	0.92[EUR][1000 genomes]
rs4629974	0.92[EUR][1000 genomes]
rs55802908	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56030218	0.84[EUR][1000 genomes]
rs7021072	0.90[AFR][1000 genomes]
rs72686857	0.84[EUR][1000 genomes]
rs7858392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874689	0.93[AFR][1000 genomes]
rs7874958	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv892686	chr9:18273100-18328341	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv430001	chr9:18301116-18346392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv525743	chr9:18312578-18359014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4129608	MLLT3	cis	parietal	SCAN
rs4129608	IFNA14	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18323600-18332000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:18325000-18328800	Enhancers	Hela-S3	cervix
3	chr9:18325600-18334200	Weak transcription	Fetal Heart	heart
4	chr9:18326000-18333200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:18326400-18327600	Enhancers	Osteobl	bone
6	chr9:18326800-18327800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:18327200-18327400	Enhancers	Rectal Smooth Muscle	rectum
8	chr9:18327200-18327600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:18327200-18327600	Enhancers	HSMM	muscle
10	chr9:18327200-18327800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:18327200-18327800	Enhancers	NHDF-Ad	bronchial

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