Variant report

Variant	rs13272051
Chromosome Location	chr8:131401726-131401727
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	TCF12	chr8:131401245-131401774	SK-N-SH	brain:	n/a	n/a
2	MAFF	chr8:131401455-131401730	HepG2	liver:	n/a	chr8:131401615-131401633
3	PBX3	chr8:131401299-131401941	SK-N-SH	brain:	n/a	n/a
4	USF1	chr8:131401408-131401740	SK-N-SH	brain:	n/a	n/a
5	YY1	chr8:131401369-131401819	SK-N-SH_RA	brain:	n/a	chr8:131401584-131401592 chr8:131401615-131401627 chr8:131401578-131401597 chr8:131401583-131401595
6	TCF12	chr8:131401230-131401936	SK-N-SH	brain:	n/a	n/a
7	MAFF	chr8:131401488-131401733	K562	blood:	n/a	chr8:131401615-131401633
8	POLR2A	chr8:131401466-131401774	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr8:131401518-131401779	IMR90	lung:	n/a	chr8:131401617-131401632
10	POLR2A	chr8:131401075-131401801	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr8:131401460-131401780	HepG2	liver:	n/a	chr8:131401617-131401632
12	YY1	chr8:131401394-131401853	SK-N-SH	brain:	n/a	chr8:131401584-131401592 chr8:131401615-131401627 chr8:131401578-131401597 chr8:131401583-131401595
13	EP300	chr8:131401429-131401839	SK-N-SH_RA	brain:	n/a	n/a
14	MAFK	chr8:131401457-131401780	HepG2	liver:	n/a	chr8:131401617-131401632
15	YY1	chr8:131401356-131401828	SK-N-SH_RA	brain:	n/a	chr8:131401584-131401592 chr8:131401615-131401627 chr8:131401578-131401597 chr8:131401583-131401595
16	MAFK	chr8:131401498-131401727	Hela-S3	cervix:	n/a	chr8:131401617-131401632
17	YY1	chr8:131401380-131401806	H1-hESC	embryonic stem cell:	n/a	chr8:131401584-131401592 chr8:131401615-131401627 chr8:131401578-131401597 chr8:131401583-131401595
18	EP300	chr8:131401410-131401859	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086773	0.91[EUR][1000 genomes]
rs10099549	0.83[EUR][1000 genomes]
rs10956523	0.90[EUR][1000 genomes]
rs11784041	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11984909	0.96[ASN][1000 genomes]
rs34334020	0.91[ASN][1000 genomes]
rs4504679	0.91[EUR][1000 genomes]
rs4526396	0.97[ASN][1000 genomes]
rs4609234	0.94[EUR][1000 genomes]
rs5027392	0.91[EUR][1000 genomes]
rs6994854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007359	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7011509	1.00[ASN][1000 genomes]
rs7016144	1.00[ASN][1000 genomes]
rs7822048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7832888	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
4	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
5	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
7	chr8:131388600-131407200	Weak transcription	HSMM	muscle
8	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
10	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
13	chr8:131394200-131408800	Weak transcription	NH-A	brain
14	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
15	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
17	chr8:131397200-131407400	Weak transcription	Spleen	Spleen
18	chr8:131397400-131407200	Weak transcription	Ovary	ovary
19	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131398600-131408200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
23	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
24	chr8:131399000-131404800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:131399000-131407000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:131399200-131403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131399200-131404800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:131399200-131404800	Weak transcription	HepG2	liver
29	chr8:131399200-131405400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:131399200-131407000	Weak transcription	Fetal Stomach	stomach
31	chr8:131399200-131407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:131399200-131407200	Weak transcription	Left Ventricle	heart
33	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
35	chr8:131399400-131408600	Weak transcription	Fetal Lung	lung
36	chr8:131399400-131409600	Weak transcription	HMEC	breast
37	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:131399600-131402800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:131399600-131404800	Weak transcription	NHLF	lung
40	chr8:131399600-131407000	Weak transcription	Lung	lung
41	chr8:131400000-131403200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:131400200-131402200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:131400200-131402400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:131400200-131403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:131400400-131401800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:131400400-131402200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:131400400-131402400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:131400400-131402800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:131400400-131403000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:131400400-131405400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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