Variant report

Variant	rs13319872
Chromosome Location	chr3:53166098-53166099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53160337..53170540-chr3:53189028..53198029,25	MCF-7	breast:
2	chr3:53164535..53167069-chr3:53288219..53290615,2	MCF-7	breast:
3	chr3:53165904..53167414-chr3:53254063..53255573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1004807	0.81[EUR][1000 genomes]
rs11130341	0.94[EUR][1000 genomes]
rs12630819	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12638996	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13433700	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1560332	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2564929	0.87[ASN][1000 genomes]
rs2564944	0.89[EUR][1000 genomes]
rs28501212	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28734933	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796351	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4282053	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687570	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55950520	0.87[ASN][1000 genomes]
rs56058643	0.87[ASN][1000 genomes]
rs56386026	0.87[ASN][1000 genomes]
rs57261253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57514626	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61296683	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62255925	0.87[ASN][1000 genomes]
rs62255929	0.87[ASN][1000 genomes]
rs62255931	0.87[ASN][1000 genomes]
rs6445565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6445566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6769931	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6769944	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6777975	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6783748	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6784207	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6792345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6792363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6799837	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6809973	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73088322	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73088327	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73088342	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7615099	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs891369	0.87[ASN][1000 genomes]
rs9757079	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9817467	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9820125	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9820324	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9824325	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9828221	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9830353	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9834111	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9838517	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9844531	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9845021	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9845352	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9845484	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9858469	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9861744	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9867023	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9867590	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9868263	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9868406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9878875	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590356	chr3:53134098-53170500	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv460553	chr3:53147576-53185061	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv590357	chr3:53147576-53185061	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13319872	RFT1	cis	Esophagus Muscularis	GTEx
rs13319872	SERBP1P3	cis	Thyroid	GTEx
rs13319872	RFT1	cis	Artery Aorta	GTEx
rs13319872	RFT1	cis	Artery Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53164800-53170600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:53165000-53168600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:53165000-53169800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:53165000-53176200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:53165000-53176400	Weak transcription	Aorta	Aorta
6	chr3:53165200-53166400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:53165200-53166600	Enhancers	A549	lung
8	chr3:53165200-53166800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:53165200-53167200	Enhancers	HMEC	breast
10	chr3:53165200-53169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:53165400-53166200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:53165400-53166400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:53165400-53166400	Weak transcription	Stomach Mucosa	stomach
14	chr3:53165400-53167200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:53165400-53167600	Weak transcription	Adipose Nuclei	Adipose
16	chr3:53165400-53168400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:53165400-53168600	Weak transcription	Colonic Mucosa	Colon
18	chr3:53165400-53168600	Weak transcription	Fetal Intestine Large	intestine
19	chr3:53165400-53169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:53165400-53173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:53165400-53176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:53165600-53167600	Weak transcription	Liver	Liver
23	chr3:53165600-53168400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:53165600-53168400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:53165600-53168400	Weak transcription	Hela-S3	cervix
26	chr3:53165600-53168400	Enhancers	HepG2	liver
27	chr3:53165600-53168600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:53165600-53168600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr3:53165600-53168600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:53165600-53168600	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:53165600-53168600	Weak transcription	Fetal Lung	lung
32	chr3:53165600-53168600	Weak transcription	Lung	lung
33	chr3:53165600-53168600	Weak transcription	Pancreas	Pancrea
34	chr3:53165600-53168600	Weak transcription	Right Ventricle	heart
35	chr3:53165600-53168600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:53165600-53168800	Weak transcription	Brain Substantia Nigra	brain
37	chr3:53165600-53168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:53165600-53168800	Weak transcription	Esophagus	oesophagus
39	chr3:53165600-53169200	Weak transcription	Brain Anterior Caudate	brain
40	chr3:53165600-53169600	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:53165600-53170800	Weak transcription	Fetal Thymus	thymus
42	chr3:53165600-53173400	Weak transcription	Gastric	stomach
43	chr3:53165600-53174200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:53165600-53174200	Weak transcription	Fetal Heart	heart
45	chr3:53165600-53174200	Weak transcription	Left Ventricle	heart
46	chr3:53165600-53174600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:53165600-53177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:53165600-53181400	Weak transcription	Spleen	Spleen
49	chr3:53165800-53166200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:53165800-53166200	Enhancers	Primary B cells from cord blood	blood

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