Variant report

Variant	rs17073826
Chromosome Location	chr13:50724108-50724109
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50698310..50701575-chr13:50723164..50726117,4	MCF-7	breast:
2	chr13:50700096..50702357-chr13:50721574..50724200,2	K562	blood:
3	chr13:50641977..50644560-chr13:50723615..50726580,2	K562	blood:
4	chr13:50719538..50722046-chr13:50723556..50725179,2	MCF-7	breast:
5	chr13:50724073..50728700-chr13:50729258..50733237,4	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12100048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs12583615	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs12584069	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1323451	0.88[EUR][1000 genomes]
rs17073655	1.00[CHB][hapmap]
rs17073724	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17073834	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17471092	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1963729	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2066540	1.00[CHB][hapmap]
rs2066553	1.00[CHB][hapmap]
rs2066555	1.00[CHB][hapmap]
rs2066566	0.83[EUR][1000 genomes]
rs2066586	0.86[EUR][1000 genomes]
rs2066598	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177313	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2407882	1.00[CHB][hapmap]
rs61961304	0.84[EUR][1000 genomes]
rs61961305	0.84[EUR][1000 genomes]
rs61961323	0.84[EUR][1000 genomes]
rs61961325	0.84[EUR][1000 genomes]
rs61961327	0.88[EUR][1000 genomes]
rs61961328	0.88[EUR][1000 genomes]
rs61962359	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561571	1.00[CHB][hapmap]
rs6561572	1.00[CHB][hapmap]
rs6561575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs73196768	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7325091	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7325993	0.88[EUR][1000 genomes]
rs7331247	0.81[EUR][1000 genomes]
rs7334063	1.00[CHB][hapmap]
rs7339181	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7981648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7982125	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7984332	1.00[CHB][hapmap]
rs7986364	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7990502	1.00[CHB][hapmap]
rs7991744	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7994224	1.00[CHB][hapmap]
rs7995192	1.00[JPT][hapmap]
rs7998223	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9596240	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17073826	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs17073826	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50715600-50726400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:50718400-50727800	Weak transcription	Stomach Mucosa	stomach
3	chr13:50719000-50725600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:50719200-50724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:50719200-50726000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr13:50719200-50726200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:50719400-50726400	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:50721200-50726600	Weak transcription	HepG2	liver
9	chr13:50721400-50726000	Weak transcription	Osteobl	bone
10	chr13:50721800-50725400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:50722000-50724200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:50722000-50724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:50722400-50724600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:50723200-50724400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:50723200-50724600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:50723200-50724800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:50723400-50724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:50723400-50724400	Enhancers	NHDF-Ad	bronchial
19	chr13:50723400-50724600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:50723400-50724600	Enhancers	Fetal Lung	lung
21	chr13:50723600-50724200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:50723600-50724400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:50723600-50724400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr13:50723600-50724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:50723600-50724400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:50723600-50724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:50723600-50724400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:50723600-50724400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:50723600-50724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:50723600-50724600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:50723600-50724800	Enhancers	Fetal Heart	heart
32	chr13:50723800-50724400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:50723800-50724400	Enhancers	Brain Germinal Matrix	brain
34	chr13:50723800-50724400	Enhancers	Fetal Muscle Leg	muscle
35	chr13:50723800-50724400	Enhancers	Left Ventricle	heart
36	chr13:50724000-50724600	Enhancers	Liver	Liver
37	chr13:50724000-50724600	Enhancers	Right Ventricle	heart

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