Variant report

Variant	rs9933834
Chromosome Location	chr16:70683178-70683179
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr16:70683040-70683658	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70413470..70415352-chr16:70682126..70684373,2	MCF-7	breast:
2	chr16:70680910..70683567-chr16:70688856..70691172,2	K562	blood:
3	chr16:70413939..70416331-chr16:70682108..70684497,2	MCF-7	breast:

Variant related genes	Relation type
IL34	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11865804	0.92[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs11866403	0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs12596070	0.93[EUR][1000 genomes]
rs12596475	0.82[EUR][1000 genomes]
rs12598456	0.83[EUR][1000 genomes]
rs12598945	0.81[EUR][1000 genomes]
rs12919296	0.92[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs12919451	0.87[EUR][1000 genomes]
rs12920334	0.88[EUR][1000 genomes]
rs12920529	0.88[EUR][1000 genomes]
rs12923477	0.82[EUR][1000 genomes]
rs12923630	0.81[EUR][1000 genomes]
rs12923637	0.88[EUR][1000 genomes]
rs12924304	0.84[EUR][1000 genomes]
rs12925493	0.81[EUR][1000 genomes]
rs12926402	0.80[EUR][1000 genomes]
rs12929463	0.88[EUR][1000 genomes]
rs12929508	0.88[EUR][1000 genomes]
rs13329733	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1551530	0.86[EUR][1000 genomes]
rs16970408	0.81[EUR][1000 genomes]
rs1973089	0.83[EUR][1000 genomes]
rs1973090	0.89[EUR][1000 genomes]
rs33998678	0.80[EUR][1000 genomes]
rs34426756	0.82[EUR][1000 genomes]
rs34644948	0.84[EUR][1000 genomes]
rs34692833	0.84[EUR][1000 genomes]
rs34881169	0.80[EUR][1000 genomes]
rs35283920	0.88[EUR][1000 genomes]
rs35285555	0.81[EUR][1000 genomes]
rs35290416	0.81[EUR][1000 genomes]
rs35381200	0.83[EUR][1000 genomes]
rs3813905	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4985413	0.83[EUR][1000 genomes]
rs4985415	0.81[EUR][1000 genomes]
rs4985546	0.83[EUR][1000 genomes]
rs4985549	0.81[EUR][1000 genomes]
rs4985550	0.81[EUR][1000 genomes]
rs4985553	0.82[EUR][1000 genomes]
rs57738457	0.88[EUR][1000 genomes]
rs61170208	0.83[EUR][1000 genomes]
rs68049363	0.80[EUR][1000 genomes]
rs7191249	0.81[EUR][1000 genomes]
rs7192723	0.99[EUR][1000 genomes]
rs7198170	0.98[EUR][1000 genomes]
rs8060584	0.86[EUR][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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9933834	EXOSC6	cis	parietal	SCAN
rs9933834	SF3B3	cis	parietal	SCAN
rs9933834	WWP2	cis	parietal	SCAN
rs9933834	COG4	cis	lymphoblastoid	seeQTL
rs9933834	PHLPP2	cis	parietal	SCAN
rs9933834	ZFP90	cis	parietal	SCAN
rs9933834	PDPR	cis	parietal	SCAN
rs9933834	NFAT5	cis	cerebellum	SCAN
rs9933834	SF3B3	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
4	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine
5	chr16:70680200-70683400	Active TSS	Brain Angular Gyrus	brain
6	chr16:70680400-70683600	Active TSS	Brain Hippocampus Middle	brain
7	chr16:70680400-70685600	Genic enhancers	Spleen	Spleen
8	chr16:70680800-70687800	Weak transcription	Colonic Mucosa	Colon
9	chr16:70680800-70687800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:70681200-70683200	Strong transcription	Fetal Stomach	stomach
11	chr16:70681400-70686400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:70681400-70687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:70681600-70685000	Weak transcription	NHLF	lung
14	chr16:70681600-70685200	Weak transcription	NH-A	brain
15	chr16:70681800-70683200	Active TSS	Brain Anterior Caudate	brain
16	chr16:70681800-70683400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:70681800-70687800	Weak transcription	Brain Substantia Nigra	brain
18	chr16:70681800-70687800	Weak transcription	HSMM	muscle
19	chr16:70682000-70683200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:70682000-70683200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:70682000-70687800	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:70682000-70687800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:70682400-70683400	Enhancers	HSMMtube	muscle
24	chr16:70682400-70687800	Weak transcription	Fetal Brain Male	brain
25	chr16:70682600-70687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:70682800-70683600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:70682800-70683600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr16:70682800-70686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:70682800-70687800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:70682800-70687800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr16:70683000-70683600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:70683000-70683600	Enhancers	Osteobl	bone
33	chr16:70683000-70684600	Weak transcription	Fetal Intestine Large	intestine
34	chr16:70683000-70685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:70683000-70685400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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