Variant report

Variant	rs492152
Chromosome Location	chr10:44757677-44757678
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	MTA3	chr10:44757032-44757717	GM12878	blood:	n/a	n/a
2	MTA3	chr10:44755353-44757714	GM12878	blood:	n/a	n/a
3	RELA	chr10:44757095-44757701	GM18505	blood:	n/a	n/a
4	RUNX3	chr10:44756822-44757915	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:44756356-44757930	GM12878	blood:	n/a	n/a
6	EP300	chr10:44755346-44758381	SK-N-SH	brain:	n/a	chr10:44755726-44755740
7	RUNX3	chr10:44757003-44757961	GM12878	blood:	n/a	n/a
8	PML	chr10:44757007-44757740	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:44755784-44757924	GM12892	blood:	n/a	n/a
10	POLR2A	chr10:44755841-44757881	GM18505	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000237590	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1632484	0.92[EUR][1000 genomes]
rs1657345	0.86[EUR][1000 genomes]
rs1746047	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1746048	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1746049	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1746050	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1746052	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2576354	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2576355	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760670	0.95[ASN][1000 genomes]
rs2781543	0.83[ASN][1000 genomes]
rs473501	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs474281	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs475926	0.86[AFR][1000 genomes]
rs479596	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs487465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494207	0.95[ASN][1000 genomes]
rs498810	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs501120	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504799	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510785	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs513391	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs518594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs522293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534079	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535176	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs535949	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541483	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs546659	0.95[ASN][1000 genomes]
rs554565	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559469	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579058	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583489	0.95[ASN][1000 genomes]
rs587375	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs604674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605414	0.93[ASN][1000 genomes]
rs605445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605956	0.87[AFR][1000 genomes]
rs607363	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607592	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs607609	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs607760	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617035	0.94[ASN][1000 genomes]
rs617542	0.95[ASN][1000 genomes]
rs620356	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620828	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs622472	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622956	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634963	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs635612	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs646890	0.95[ASN][1000 genomes]
rs649192	0.95[ASN][1000 genomes]
rs665855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670056	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671765	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683297	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684196	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684521	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684666	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs687175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs694425	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs915083	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3495951	chr10:44757085-44761391	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3496062	chr10:44757120-44761379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3495840	chr10:44757152-44761335	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3496173	chr10:44757152-44761335	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44753000-44757800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:44754600-44758400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:44755200-44757800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:44755400-44758200	Enhancers	Fetal Heart	heart
5	chr10:44755800-44757800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr10:44755800-44758400	Enhancers	Right Ventricle	heart
7	chr10:44756000-44758400	Enhancers	Spleen	Spleen
8	chr10:44756000-44759200	Enhancers	NHDF-Ad	bronchial
9	chr10:44756000-44761000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:44756200-44757800	Enhancers	Placenta	Placenta
11	chr10:44756200-44757800	Enhancers	Left Ventricle	heart
12	chr10:44756200-44760800	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:44756400-44757800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:44756400-44758000	Enhancers	Fetal Muscle Leg	muscle
15	chr10:44756400-44760200	Enhancers	Colon Smooth Muscle	Colon
16	chr10:44756600-44757800	Enhancers	Colonic Mucosa	Colon
17	chr10:44756600-44758000	Enhancers	Right Atrium	heart
18	chr10:44756600-44758200	Enhancers	Ovary	ovary
19	chr10:44756600-44759200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:44756600-44760200	Enhancers	Adipose Nuclei	Adipose
21	chr10:44756800-44757800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr10:44756800-44759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:44757000-44757800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:44757000-44757800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:44757000-44757800	Enhancers	Fetal Intestine Small	intestine
26	chr10:44757000-44758000	Enhancers	NHLF	lung
27	chr10:44757000-44758200	Enhancers	Pancreas	Pancrea
28	chr10:44757000-44758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:44757000-44758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:44757200-44757800	Enhancers	Stomach Mucosa	stomach
31	chr10:44757200-44758400	Enhancers	Lung	lung
32	chr10:44757200-44759600	Enhancers	GM12878-XiMat	blood
33	chr10:44757200-44760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:44757400-44757800	Enhancers	Small Intestine	intestine
35	chr10:44757400-44757800	Flanking Active TSS	Osteobl	bone
36	chr10:44757400-44759600	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:44757400-44760400	Enhancers	Fetal Stomach	stomach
38	chr10:44757600-44757800	Enhancers	HSMMtube	muscle
39	chr10:44757600-44759000	Enhancers	Rectal Mucosa Donor 31	rectum

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