Variant report

Variant	rs7192723
Chromosome Location	chr16:70683202-70683203
allele	C/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: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11865804	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11866403	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12596070	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12596475	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12598456	0.84[EUR][1000 genomes]
rs12598945	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12919296	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12919451	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12920334	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12920529	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12923477	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12923630	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12923637	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12924304	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12925493	0.80[EUR][1000 genomes]
rs12926402	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12929463	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12929508	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13329733	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1551530	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16970408	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1973089	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1973090	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33998678	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34426756	0.83[EUR][1000 genomes]
rs34644948	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34692833	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34881169	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35283920	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35285555	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35290416	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35381200	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36097154	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3813905	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985413	0.82[EUR][1000 genomes]
rs4985415	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4985546	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985549	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4985550	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4985553	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57738457	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57752020	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59865481	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61170208	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68049363	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7191249	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7198170	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8060584	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9933834	0.99[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
rs7192723	IL34	cis	lung	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
3	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine
4	chr16:70680200-70683400	Active TSS	Brain Angular Gyrus	brain
5	chr16:70680400-70683600	Active TSS	Brain Hippocampus Middle	brain
6	chr16:70680400-70685600	Genic enhancers	Spleen	Spleen
7	chr16:70680800-70687800	Weak transcription	Colonic Mucosa	Colon
8	chr16:70680800-70687800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:70681400-70686400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:70681400-70687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:70681600-70685000	Weak transcription	NHLF	lung
12	chr16:70681600-70685200	Weak transcription	NH-A	brain
13	chr16:70681800-70683400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:70681800-70687800	Weak transcription	Brain Substantia Nigra	brain
15	chr16:70681800-70687800	Weak transcription	HSMM	muscle
16	chr16:70682000-70687800	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:70682000-70687800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:70682400-70683400	Enhancers	HSMMtube	muscle
19	chr16:70682400-70687800	Weak transcription	Fetal Brain Male	brain
20	chr16:70682600-70687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:70682800-70683600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:70682800-70683600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr16:70682800-70686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:70682800-70687800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:70682800-70687800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:70683000-70683600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:70683000-70683600	Enhancers	Osteobl	bone
28	chr16:70683000-70684600	Weak transcription	Fetal Intestine Large	intestine
29	chr16:70683000-70685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:70683000-70685400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:70683200-70683400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:70683200-70683600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:70683200-70683600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr16:70683200-70683600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr16:70683200-70683600	Enhancers	Brain Anterior Caudate	brain
36	chr16:70683200-70687800	Weak transcription	Fetal Stomach	stomach
37	chr16:70683200-70687800	Weak transcription	K562	blood
38	chr16:70683200-70688000	Weak transcription	H1 Cell Line	embryonic stem cell

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