Variant report

Variant	rs8073794
Chromosome Location	chr17:19627229-19627230
allele	A/C/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	MYC	chr17:19627203-19628309	MCF10A-Er-Src	breast:	n/a	chr17:19628272-19628281 chr17:19627939-19627950 chr17:19628267-19628286 chr17:19628272-19628281 chr17:19628270-19628283
2	TFAP2C	chr17:19627188-19627911	Hela-S3	cervix:	n/a	chr17:19627457-19627472
3	FOS	chr17:19627209-19627615	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:19627214-19627602	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr17:19627160-19627701	MCF-7	breast:	n/a	n/a
6	TFAP2A	chr17:19627184-19627827	Hela-S3	cervix:	n/a	n/a
7	MYC	chr17:19627197-19628063	MCF10A-Er-Src	breast:	n/a	chr17:19627939-19627950

No.	Distal block	Cell Line	Cell type
1	chr11:67380566..67382466-chr17:19627123..19628760,2	MCF-7	breast:
2	chr17:19551299..19553745-chr17:19626814..19628923,2	MCF-7	breast:
3	chr17:19625321..19633420-chr17:19643892..19652817,11	MCF-7	breast:
4	chr17:19624830..19631833-chr17:19654160..19660410,12	MCF-7	breast:
5	chr17:19626221..19628262-chr17:19634519..19636560,2	MCF-7	breast:
6	chr17:19626307..19628911-chr8:125486241..125488488,2	MCF-7	breast:

Variant related genes	Relation type
SLC47A2	TF binding region
ENSG00000072210	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000264932	Chromatin interaction
ENSG00000230607	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000231793	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1006554	0.83[ASN][1000 genomes]
rs11204413	0.83[ASN][1000 genomes]
rs11204414	0.86[ASN][1000 genomes]
rs12948735	0.83[ASN][1000 genomes]
rs2108967	0.83[ASN][1000 genomes]
rs4924793	0.83[ASN][1000 genomes]
rs7214841	0.83[ASN][1000 genomes]
rs7222877	0.83[ASN][1000 genomes]
rs887241	0.83[ASN][1000 genomes]
rs9910370	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3406151	chr17:19626085-19628158	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8073794	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
2	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:19619800-19627800	Enhancers	Fetal Intestine Large	intestine
4	chr17:19620000-19628000	Enhancers	Fetal Intestine Small	intestine
5	chr17:19620600-19627400	Weak transcription	Brain Anterior Caudate	brain
6	chr17:19623200-19648400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:19623400-19628000	Enhancers	Fetal Heart	heart
8	chr17:19624000-19627600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:19624000-19630600	Weak transcription	Small Intestine	intestine
10	chr17:19624200-19627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:19624200-19627800	Weak transcription	Fetal Lung	lung
12	chr17:19624400-19627400	Weak transcription	Left Ventricle	heart
13	chr17:19624600-19627400	Weak transcription	Adipose Nuclei	Adipose
14	chr17:19624600-19627400	Weak transcription	Liver	Liver
15	chr17:19624600-19627400	Weak transcription	Ovary	ovary
16	chr17:19624600-19627600	Weak transcription	Pancreas	Pancrea
17	chr17:19624800-19627400	Weak transcription	Esophagus	oesophagus
18	chr17:19624800-19627400	Weak transcription	Gastric	stomach
19	chr17:19624800-19627400	Weak transcription	Lung	lung
20	chr17:19624800-19627400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:19624800-19627400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:19624800-19627400	Weak transcription	Stomach Mucosa	stomach
23	chr17:19624800-19627400	Weak transcription	Spleen	Spleen
24	chr17:19624800-19627400	Weak transcription	HSMMtube	muscle
25	chr17:19624800-19627600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr17:19624800-19627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:19624800-19631400	Weak transcription	Brain Germinal Matrix	brain
28	chr17:19625000-19627400	Weak transcription	Colonic Mucosa	Colon
29	chr17:19625000-19630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:19625200-19631000	Weak transcription	Fetal Kidney	kidney
31	chr17:19625800-19630400	Weak transcription	HepG2	liver
32	chr17:19626400-19627600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:19626400-19627600	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:19626400-19628000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:19626400-19628800	Enhancers	Fetal Muscle Leg	muscle
36	chr17:19626600-19627600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr17:19626600-19629000	Enhancers	HMEC	breast
38	chr17:19627000-19627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:19627000-19627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:19627000-19629000	Enhancers	A549	lung
41	chr17:19627200-19627400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:19627200-19627400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr17:19627200-19627600	Enhancers	Primary T cells from cord blood	blood
44	chr17:19627200-19627600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr17:19627200-19627600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr17:19627200-19627600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:19627200-19627600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr17:19627200-19627600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr17:19627200-19627600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr17:19627200-19627600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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