Variant report

Variant	rs8070624
Chromosome Location	chr17:17843396-17843397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17842655..17844520-chr17:17849139..17852302,3	MCF-7	breast:
2	chr17:17841663..17844625-chr17:17845017..17847757,2	MCF-7	breast:
3	chr17:17830467..17833990-chr17:17840176..17843911,4	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11078405	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11650649	0.87[ASN][1000 genomes]
rs11650890	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11657074	0.87[ASN][1000 genomes]
rs11871899	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12452219	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12452254	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12936037	0.87[ASN][1000 genomes]
rs12941039	0.87[ASN][1000 genomes]
rs12943500	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1889014	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4244602	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4341796	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4534911	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4553680	0.95[ASN][1000 genomes]
rs4925123	0.87[ASN][1000 genomes]
rs4925129	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925130	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5002487	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62064156	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502619	0.87[ASN][1000 genomes]
rs6502622	0.81[AMR][1000 genomes]
rs6502625	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502629	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7207043	0.81[AMR][1000 genomes]
rs7207395	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7222480	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7224815	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7503334	0.87[ASN][1000 genomes]
rs8065497	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8065563	0.87[ASN][1000 genomes]
rs8070128	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8077338	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078138	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078583	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080823	0.95[ASN][1000 genomes]
rs950966	0.87[ASN][1000 genomes]
rs9895750	0.87[ASN][1000 genomes]
rs9908299	0.87[ASN][1000 genomes]
rs9912895	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8070624	DRG2	cis	Thyroid	GTEx
rs8070624	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:17832400-17843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:17832800-17843600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:17833000-17843600	Weak transcription	Fetal Stomach	stomach
6	chr17:17835000-17843800	Weak transcription	Aorta	Aorta
7	chr17:17836400-17853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:17836600-17846600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr17:17836800-17843800	Enhancers	Osteobl	bone
10	chr17:17836800-17846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:17837000-17845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:17837400-17847800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:17837800-17844000	Enhancers	Fetal Heart	heart
14	chr17:17837800-17847600	Enhancers	HMEC	breast
15	chr17:17838000-17844400	Enhancers	Fetal Intestine Large	intestine
16	chr17:17838000-17845000	Enhancers	Right Ventricle	heart
17	chr17:17838000-17848600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr17:17838200-17844600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr17:17838200-17845600	Enhancers	Right Atrium	heart
20	chr17:17838400-17844800	Enhancers	Small Intestine	intestine
21	chr17:17838600-17845400	Enhancers	Esophagus	oesophagus
22	chr17:17838600-17846600	Enhancers	Duodenum Mucosa	Duodenum
23	chr17:17838800-17846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:17838800-17846000	Enhancers	Psoas Muscle	Psoas
25	chr17:17839400-17843600	Weak transcription	Brain Germinal Matrix	brain
26	chr17:17839400-17843800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:17839400-17844800	Weak transcription	Primary T cells from cord blood	blood
28	chr17:17839400-17858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:17839400-17860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:17839600-17843400	Weak transcription	Fetal Lung	lung
31	chr17:17839600-17843600	Weak transcription	Fetal Brain Female	brain
32	chr17:17839600-17843800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:17839600-17843800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr17:17839600-17846600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:17839600-17846600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:17839800-17843800	Weak transcription	A549	lung
37	chr17:17839800-17844600	Weak transcription	Liver	Liver
38	chr17:17839800-17846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:17839800-17859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr17:17840200-17844600	Enhancers	Gastric	stomach
41	chr17:17840400-17845000	Enhancers	Stomach Mucosa	stomach
42	chr17:17840800-17843600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:17840800-17846000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:17840800-17846600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:17840800-17846800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr17:17841000-17843600	Weak transcription	Adipose Nuclei	Adipose
47	chr17:17841000-17844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr17:17841000-17846000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:17841000-17846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:17841000-17846800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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