Variant report

Variant	rs59865481
Chromosome Location	chr16:70684782-70684783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12596070	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598955	0.87[EUR][1000 genomes]
rs12919296	0.86[AMR][1000 genomes]
rs12919451	0.86[AMR][1000 genomes]
rs12920334	0.86[AMR][1000 genomes]
rs12920529	0.88[AMR][1000 genomes]
rs12923637	0.88[AMR][1000 genomes]
rs12924304	0.84[AMR][1000 genomes]
rs12929463	0.86[AMR][1000 genomes]
rs12929508	0.83[AMR][1000 genomes]
rs1551530	0.92[ASN][1000 genomes]
rs1973089	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1973090	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34644948	0.84[AMR][1000 genomes]
rs34692833	0.83[AMR][1000 genomes]
rs35283920	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3813905	0.84[AMR][1000 genomes]
rs4985414	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4985552	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56220651	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57738457	0.86[AMR][1000 genomes]
rs57752020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192723	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7198170	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8061329	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59865481	IL34	cis	lung	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70680400-70685600	Genic enhancers	Spleen	Spleen
4	chr16:70680800-70687800	Weak transcription	Colonic Mucosa	Colon
5	chr16:70680800-70687800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:70681400-70686400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:70681400-70687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:70681600-70685000	Weak transcription	NHLF	lung
9	chr16:70681600-70685200	Weak transcription	NH-A	brain
10	chr16:70681800-70687800	Weak transcription	Brain Substantia Nigra	brain
11	chr16:70681800-70687800	Weak transcription	HSMM	muscle
12	chr16:70682000-70687800	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:70682000-70687800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:70682400-70687800	Weak transcription	Fetal Brain Male	brain
15	chr16:70682600-70687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:70682800-70686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:70682800-70687800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:70682800-70687800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:70683000-70685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:70683000-70685400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:70683200-70687800	Weak transcription	Fetal Stomach	stomach
22	chr16:70683200-70687800	Weak transcription	K562	blood
23	chr16:70683200-70688000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr16:70683600-70685000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:70683600-70685200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:70683600-70685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:70683600-70685200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:70683600-70685200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:70683600-70685200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:70683600-70685200	Weak transcription	Osteobl	bone
31	chr16:70683600-70687600	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:70683600-70687800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:70683600-70687800	Weak transcription	NHDF-Ad	bronchial
34	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr16:70684000-70685600	Enhancers	Esophagus	oesophagus
37	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:70684600-70684800	Strong transcription	Fetal Intestine Large	intestine
39	chr16:70684600-70685000	Weak transcription	HSMMtube	muscle
40	chr16:70684600-70685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:70684600-70685600	Enhancers	Brain Anterior Caudate	brain

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