Variant report

Variant	rs2206043
Chromosome Location	chr1:210042983-210042984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210042123..210044687-chr1:210056362..210058775,2	K562	blood:
2	chr1:210042727..210045204-chr1:210046464..210049067,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1073150	0.88[EUR][1000 genomes]
rs11119358	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1319072	0.80[AMR][1000 genomes]
rs1319435	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015309	0.87[EUR][1000 genomes]
rs17015330	0.88[EUR][1000 genomes]
rs17015361	0.88[EUR][1000 genomes]
rs17015379	0.87[AMR][1000 genomes]
rs2064163	0.83[EUR][1000 genomes]
rs2357230	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4556361	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55871867	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57315825	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59100111	0.85[AMR][1000 genomes]
rs59435160	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60326345	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61747285	0.87[EUR][1000 genomes]
rs6540563	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6540564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6698154	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73095703	0.88[AFR][1000 genomes]
rs735693	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735694	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511996	0.88[EUR][1000 genomes]
rs7525951	0.88[EUR][1000 genomes]
rs7540237	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551944	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2206043	TRAF3IP3	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210038000-210043200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:210038000-210044000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:210038000-210044600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:210038000-210048800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:210041000-210055400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210041200-210044000	Enhancers	Brain Germinal Matrix	brain
7	chr1:210041200-210044000	Enhancers	Fetal Brain Male	brain
8	chr1:210041200-210044000	Enhancers	Ovary	ovary
9	chr1:210041800-210044600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:210041800-210044600	Enhancers	Brain Substantia Nigra	brain
11	chr1:210041800-210045200	Enhancers	Brain Angular Gyrus	brain
12	chr1:210041800-210045200	Enhancers	Brain Hippocampus Middle	brain
13	chr1:210042000-210045400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:210042200-210043600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:210042200-210044400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:210042200-210044800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:210042200-210044800	Enhancers	Brain Anterior Caudate	brain
18	chr1:210042200-210045600	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:210042200-210046200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:210042400-210043000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:210042400-210043600	Enhancers	Fetal Stomach	stomach
22	chr1:210042400-210044400	Enhancers	Fetal Lung	lung
23	chr1:210042400-210044800	Enhancers	NHDF-Ad	bronchial
24	chr1:210042400-210045000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:210042400-210045400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:210042400-210047800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:210042600-210046600	Enhancers	HMEC	breast
28	chr1:210042600-210049400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:210042800-210043000	Enhancers	NH-A	brain
30	chr1:210042800-210043200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:210042800-210046600	Enhancers	NHEK	skin
32	chr1:210042800-210047000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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