Variant report

Variant	rs8073053
Chromosome Location	chr17:19553382-19553383
allele	A/G
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	chr17:19553187-19553473	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19549675..19554690-chr17:19558689..19564889,9	MCF-7	breast:
2	chr17:19549832..19553259-chr17:19553309..19555611,4	MCF-7	breast:
3	chr17:19552711..19555521-chr17:19564350..19566731,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264932	TF binding region
ENSG00000252349	Chromatin interaction
ENSG00000072210	Chromatin interaction
ENSG00000264932	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1034896	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11653348	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12453452	0.84[ASN][1000 genomes]
rs12453474	0.84[ASN][1000 genomes]
rs12602112	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12603959	0.86[ASN][1000 genomes]
rs12937179	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12938816	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1800869	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2072331	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2072333	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2386144	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2891952	0.83[AMR][1000 genomes]
rs34943952	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35797108	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35852749	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4646797	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4646798	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs66462929	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71369434	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7503517	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8064748	0.89[AMR][1000 genomes]
rs8068713	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8080672	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9797254	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9909440	0.88[AMR][1000 genomes]

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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2757654	chr17:19485735-19563766	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758679	chr17:19485735-19563766	Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv934250	chr17:19551657-19561421	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8073053	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19550200-19555200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:19551000-19553400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr17:19551000-19553400	Active TSS	Ovary	ovary
4	chr17:19551000-19553800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:19551000-19553800	Active TSS	Right Ventricle	heart
6	chr17:19551000-19554600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:19551200-19553600	Active TSS	Lung	lung
8	chr17:19551200-19553800	Active TSS	Brain Angular Gyrus	brain
9	chr17:19551200-19554000	Active TSS	Aorta	Aorta
10	chr17:19551200-19554200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr17:19551200-19554600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:19551200-19554800	Active TSS	Esophagus	oesophagus
13	chr17:19551200-19554800	Active TSS	Right Atrium	heart
14	chr17:19551400-19553400	Active TSS	Psoas Muscle	Psoas
15	chr17:19551400-19553400	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:19551400-19553400	Active TSS	NHDF-Ad	bronchial
17	chr17:19551400-19553600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr17:19551400-19553600	Active TSS	Fetal Intestine Large	intestine
19	chr17:19551400-19553600	Active TSS	Fetal Kidney	kidney
20	chr17:19551400-19553800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr17:19551400-19553800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:19551400-19553800	Active TSS	Fetal Brain Female	brain
23	chr17:19551400-19554000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:19551400-19554400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr17:19551400-19554600	Active TSS	Brain Anterior Caudate	brain
26	chr17:19551600-19553400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:19551600-19553600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:19551600-19553600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:19551600-19553600	Active TSS	Colonic Mucosa	Colon
30	chr17:19551600-19553800	Active TSS	HSMMtube	muscle
31	chr17:19551600-19554000	Active TSS	A549	lung
32	chr17:19551600-19554400	Active TSS	Duodenum Mucosa	Duodenum
33	chr17:19551600-19554600	Active TSS	Hela-S3	cervix
34	chr17:19551800-19553400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:19551800-19553400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:19551800-19553400	Active TSS	Pancreas	Pancrea
37	chr17:19551800-19553600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:19551800-19553600	Active TSS	Stomach Smooth Muscle	stomach
39	chr17:19551800-19553600	Active TSS	GM12878-XiMat	blood
40	chr17:19551800-19553600	Active TSS	Osteobl	bone
41	chr17:19551800-19554000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:19551800-19554000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:19552600-19553400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:19552600-19553400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr17:19552600-19553600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr17:19552600-19554400	Active TSS	HMEC	breast
47	chr17:19552600-19554800	Weak transcription	Small Intestine	intestine
48	chr17:19552600-19555000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr17:19552600-19556400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:19552800-19553400	Enhancers	Primary hematopoietic stem cells	blood

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