Variant report

Variant	rs12545351
Chromosome Location	chr8:91636668-91636669
allele	C/T
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	STAT3	chr8:91636233-91636704	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:91636187-91636957	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254180	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10086401	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10086462	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10091275	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10103198	0.88[ASN][1000 genomes]
rs10112242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10283086	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808619	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808620	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956720	0.87[ASN][1000 genomes]
rs10956730	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956736	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956748	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956749	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956750	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11776824	0.90[ASN][1000 genomes]
rs11779312	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784529	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545279	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545726	0.83[EUR][1000 genomes]
rs12547016	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548741	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548806	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12680211	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13254212	0.89[ASN][1000 genomes]
rs13255452	0.89[ASN][1000 genomes]
rs13262354	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13267237	0.81[ASN][1000 genomes]
rs13267989	0.88[ASN][1000 genomes]
rs13268594	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13279222	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13279263	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476427	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476428	0.90[ASN][1000 genomes]
rs16905041	0.90[ASN][1000 genomes]
rs1858673	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858674	0.88[ASN][1000 genomes]
rs2023624	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023626	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2073640	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2105965	0.84[EUR][1000 genomes]
rs2105967	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2105968	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2157607	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187981	0.90[ASN][1000 genomes]
rs2187982	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2213886	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285231	0.85[EUR][1000 genomes]
rs2285232	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2285233	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34126139	0.87[ASN][1000 genomes]
rs35159732	0.83[EUR][1000 genomes]
rs35409073	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36046037	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4140679	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4140680	0.86[ASN][1000 genomes]
rs4495386	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4495387	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734237	0.91[EUR][1000 genomes]
rs4734250	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734266	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734268	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734269	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735210	0.90[ASN][1000 genomes]
rs4735230	0.87[ASN][1000 genomes]
rs4735236	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735256	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735260	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735268	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5005585	0.89[ASN][1000 genomes]
rs62526886	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986001	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986088	0.84[EUR][1000 genomes]
rs6986359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986689	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988733	0.84[EUR][1000 genomes]
rs6989123	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6998150	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6999898	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7000724	0.83[EUR][1000 genomes]
rs7004287	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006279	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007102	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007129	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008172	0.83[EUR][1000 genomes]
rs7008765	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012741	0.83[EUR][1000 genomes]
rs7013893	0.87[ASN][1000 genomes]
rs7014073	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7014967	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7016220	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs715057	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463641	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs756568	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs756569	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812970	0.84[EUR][1000 genomes]
rs7817954	0.84[EUR][1000 genomes]
rs7819519	0.87[ASN][1000 genomes]
rs7823461	0.88[ASN][1000 genomes]
rs7826178	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7837109	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837230	0.87[ASN][1000 genomes]
rs7840846	0.87[ASN][1000 genomes]
rs9297871	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643298	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643307	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643308	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9693182	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9694450	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91620400-91652200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
3	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:91624400-91644800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:91628200-91650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
7	chr8:91629000-91639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:91629200-91638600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:91629200-91639800	Weak transcription	Lung	lung
10	chr8:91629200-91650200	Weak transcription	Esophagus	oesophagus
11	chr8:91629200-91653400	Weak transcription	Ovary	ovary
12	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:91629400-91637600	Weak transcription	Placenta	Placenta
14	chr8:91629400-91638400	Weak transcription	Liver	Liver
15	chr8:91629400-91638800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:91629400-91640800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:91629400-91645200	Weak transcription	NHDF-Ad	bronchial
18	chr8:91629600-91637800	Weak transcription	HepG2	liver
19	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:91630200-91639200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr8:91630200-91642200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:91630400-91638000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:91630600-91637200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:91630600-91642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:91630600-91649400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
28	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:91630800-91640000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:91630800-91640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:91630800-91640600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:91630800-91652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
36	chr8:91631000-91641000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:91631000-91654800	Weak transcription	NH-A	brain
38	chr8:91631200-91638200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
40	chr8:91631600-91637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:91631600-91638800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:91631600-91640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:91631800-91637200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:91631800-91637800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:91631800-91638600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:91631800-91639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:91632000-91638400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
49	chr8:91632400-91652200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:91632600-91638400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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