Variant report

Variant	rs3133810
Chromosome Location	chr8:104415118-104415119
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	TBL1XR1	chr8:104415045-104415169	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:

Variant related genes	Relation type
SLC25A32	TF binding region
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17229709	1.00[MKK][hapmap]
rs17804400	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2575690	0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2575695	0.82[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs2575700	0.85[GIH][hapmap]
rs2687358	0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2687360	0.81[GIH][hapmap]
rs3098228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098229	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098241	0.82[MEX][hapmap]
rs3098246	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098247	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098254	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133801	0.99[ASN][1000 genomes]
rs3133803	1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]
rs3133805	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134254	0.82[MEX][hapmap]
rs719842	0.96[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3133810	DCAF13	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104384600-104418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104385000-104415600	Weak transcription	Placenta	Placenta
3	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:104386000-104418600	Weak transcription	Aorta	Aorta
6	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
7	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:104394800-104421800	Weak transcription	Small Intestine	intestine
9	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
10	chr8:104400200-104425600	Weak transcription	Colonic Mucosa	Colon
11	chr8:104400600-104422400	Weak transcription	Lung	lung
12	chr8:104400800-104418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
14	chr8:104402400-104415600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:104404200-104425400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
17	chr8:104404400-104425000	Weak transcription	Fetal Brain Female	brain
18	chr8:104404600-104423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:104405600-104417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:104405800-104426600	Weak transcription	Gastric	stomach
22	chr8:104406200-104420000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:104406800-104424800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:104407400-104425200	Weak transcription	Fetal Brain Male	brain
25	chr8:104407600-104417600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:104407800-104417800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:104408200-104418600	Weak transcription	Brain Substantia Nigra	brain
28	chr8:104408600-104418000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr8:104409000-104418000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:104409000-104423000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:104409200-104415600	Strong transcription	GM12878-XiMat	blood
32	chr8:104409200-104417800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:104409200-104418600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:104409200-104418600	Strong transcription	Dnd41	blood
35	chr8:104409200-104418800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:104409400-104419000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:104409400-104419400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:104409400-104425200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:104409600-104419000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:104409600-104419000	Strong transcription	Osteobl	bone
41	chr8:104409600-104419600	Strong transcription	Hela-S3	cervix
42	chr8:104409800-104416600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:104409800-104417600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:104409800-104418200	Strong transcription	Liver	Liver
45	chr8:104409800-104419200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:104410000-104423600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:104410200-104417400	Strong transcription	HSMM	muscle
48	chr8:104410200-104417800	Strong transcription	NH-A	brain
49	chr8:104410200-104419600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:104410400-104417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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