Variant report

Variant	rs17720157
Chromosome Location	chr17:19633060-19633061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19625321..19633420-chr17:19643892..19652817,11	MCF-7	breast:
2	chr17:19618336..19623572-chr17:19629964..19633338,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180638	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000262681	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006553	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1042183	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11650088	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11651480	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11653719	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11655457	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12945000	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12948881	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1989379	0.96[EUR][1000 genomes]
rs2016823	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072329	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2072330	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3760486	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3760487	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3786036	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3826507	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	21 gene(s)	inside rSNPs	diseases
7	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv526290	chr17:19613357-19651482	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17720157	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:19623200-19648400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:19628200-19640800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:19629200-19633800	Enhancers	Fetal Muscle Leg	muscle
5	chr17:19629800-19633200	Enhancers	Brain Substantia Nigra	brain
6	chr17:19630000-19633400	Enhancers	HSMMtube	muscle
7	chr17:19630200-19633600	Enhancers	Ovary	ovary
8	chr17:19630600-19633800	Enhancers	Placenta	Placenta
9	chr17:19631600-19634000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr17:19631600-19635000	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:19631800-19634000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:19631800-19636800	Weak transcription	Fetal Intestine Large	intestine
13	chr17:19631800-19637600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:19631800-19639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:19632000-19648000	Weak transcription	Spleen	Spleen
16	chr17:19632200-19633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:19632200-19633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:19632200-19633200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:19632200-19634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:19632200-19634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:19632200-19634400	Weak transcription	Adipose Nuclei	Adipose
22	chr17:19632200-19636800	Weak transcription	Fetal Intestine Small	intestine
23	chr17:19632200-19636800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:19632200-19637000	Weak transcription	Stomach Mucosa	stomach
25	chr17:19632200-19637600	Weak transcription	Small Intestine	intestine
26	chr17:19632200-19640400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:19632400-19634600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:19632400-19634600	Weak transcription	A549	lung
29	chr17:19632800-19633400	Enhancers	Right Atrium	heart
30	chr17:19632800-19634200	Weak transcription	HepG2	liver
31	chr17:19632800-19634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:19632800-19634400	Weak transcription	Lung	lung
33	chr17:19633000-19633200	Enhancers	Brain Cingulate Gyrus	brain
34	chr17:19633000-19633200	Enhancers	Brain Hippocampus Middle	brain
35	chr17:19633000-19633200	Enhancers	Gastric	stomach
36	chr17:19633000-19633400	Weak transcription	Brain Anterior Caudate	brain
37	chr17:19633000-19633400	Enhancers	Esophagus	oesophagus

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