Variant report

Variant	rs2955360
Chromosome Location	chr17:17974887-17974888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17973806..17976094-chr17:17976515..17979331,5	K562	blood:
2	chr17:17973639..17975768-chr17:17988189..17989700,2	K562	blood:
3	chr17:17972487..17976143-chr17:17976511..17979326,5	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11652894	0.87[ASN][1000 genomes]
rs12943202	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12943914	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948749	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12952818	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230316	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955351	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955371	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2955382	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4925138	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712265	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827413	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079418	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs854762	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854764	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854765	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854766	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854810	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854813	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	13 gene(s)	inside rSNPs	diseases
5	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2955360	DRG2	cis	Thyroid	GTEx
rs2955360	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17971400-17978200	Weak transcription	Brain Anterior Caudate	brain
3	chr17:17974000-17975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:17974000-17975200	Flanking Active TSS	K562	blood
5	chr17:17974200-17975000	Enhancers	Primary hematopoietic stem cells	blood
6	chr17:17974200-17975000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:17974200-17975000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr17:17974200-17975000	Enhancers	Fetal Stomach	stomach
9	chr17:17974200-17975200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:17974200-17975400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:17974200-17975800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:17974400-17975000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:17974400-17975000	Enhancers	HepG2	liver
14	chr17:17974600-17975000	Enhancers	Osteobl	bone
15	chr17:17974600-17975200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:17974600-17979200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:17974600-17984400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:17974600-17986400	Weak transcription	Placenta	Placenta
19	chr17:17974800-17975000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:17974800-17975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:17974800-17975000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:17974800-17975200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:17974800-17975400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:17974800-17978000	Weak transcription	A549	lung

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