Variant report

Variant	rs11080363
Chromosome Location	chr17:34259429-34259430
allele	A/C
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	POLR2A	chr17:34257212-34259498	K562	blood:	n/a	n/a
2	JUND	chr17:34258990-34259475	K562	blood:	n/a	n/a

Variant related genes	Relation type
RDM1	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11650409	0.85[CEU][hapmap]
rs11653051	0.85[CEU][hapmap]
rs11653282	0.85[CEU][hapmap]
rs11655533	0.85[CEU][hapmap]
rs11657908	0.85[CEU][hapmap]
rs11871113	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3785764	0.85[CEU][hapmap]
rs4796108	0.85[CEU][hapmap]
rs8064395	0.85[CEU][hapmap]
rs9899866	0.85[CEU][hapmap]
rs9899870	0.85[CEU][hapmap]
rs9900236	0.85[CEU][hapmap]
rs9904675	0.85[CEU][hapmap]
rs9907295	0.85[CEU][hapmap]
rs9908011	0.85[CEU][hapmap]
rs9912284	0.85[CEU][hapmap]
rs9912571	0.85[CEU][hapmap]
rs9912793	0.82[CEU][hapmap]
rs9913488	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3380735	chr17:34246253-34271932	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11080363	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34257800-34264000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:34257800-34266200	Weak transcription	Aorta	Aorta
3	chr17:34258000-34259800	Enhancers	Brain Germinal Matrix	brain
4	chr17:34258000-34259800	Enhancers	Fetal Intestine Small	intestine
5	chr17:34258000-34259800	Enhancers	Fetal Muscle Leg	muscle
6	chr17:34258000-34260000	Enhancers	Adipose Nuclei	Adipose
7	chr17:34258000-34260200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:34258000-34260400	Enhancers	Fetal Muscle Trunk	muscle
9	chr17:34258000-34260400	Enhancers	Fetal Stomach	stomach
10	chr17:34258000-34273800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:34258200-34259800	Enhancers	Fetal Lung	lung
12	chr17:34258200-34260000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:34258200-34260000	Enhancers	Fetal Heart	heart
14	chr17:34258200-34260000	Enhancers	Fetal Kidney	kidney
15	chr17:34258200-34260200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:34258200-34260200	Enhancers	Osteobl	bone
17	chr17:34258400-34260000	Enhancers	K562	blood
18	chr17:34258400-34263400	Weak transcription	Fetal Intestine Large	intestine
19	chr17:34258800-34259800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:34259000-34259600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:34259000-34259800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:34259000-34259800	Enhancers	Stomach Smooth Muscle	stomach
23	chr17:34259200-34259600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:34259200-34259600	Enhancers	Right Atrium	heart
25	chr17:34259200-34259800	Enhancers	NHDF-Ad	bronchial
26	chr17:34259400-34259600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:34259400-34259800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:34259400-34263600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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