Variant report

Variant	rs2862118
Chromosome Location	chr10:44758278-44758279
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	EP300	chr10:44755346-44758381	SK-N-SH	brain:	n/a	chr10:44755726-44755740

Variant related genes	Relation type
ENSG00000237590	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10900006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11238910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11238914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11238920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11238926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11238931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11238932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11238949	0.86[ASN][1000 genomes]
rs11238952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11238973	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11238974	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11238975	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11238977	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11238979	0.89[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238980	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238982	1.00[EUR][1000 genomes]
rs11528515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11528516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11528517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1159931	0.80[JPT][hapmap]
rs12218899	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12220724	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12221014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12412655	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12413395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12413979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12414524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12416023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1469894	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155514	0.89[AMR][1000 genomes]
rs17155599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17155606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17155619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17155848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155973	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155977	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1746048	0.84[ASN][1000 genomes]
rs1998500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1998501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2209065	0.80[JPT][hapmap]
rs3912307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4948613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4948862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4948867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948872	0.94[JPT][hapmap];1.00[EUR][1000 genomes]
rs73286694	1.00[EUR][1000 genomes]
rs746298	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752642	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44754600-44758400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:44755800-44758400	Enhancers	Right Ventricle	heart
3	chr10:44756000-44758400	Enhancers	Spleen	Spleen
4	chr10:44756000-44759200	Enhancers	NHDF-Ad	bronchial
5	chr10:44756000-44761000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:44756200-44760800	Enhancers	Rectal Smooth Muscle	rectum
7	chr10:44756400-44760200	Enhancers	Colon Smooth Muscle	Colon
8	chr10:44756600-44759200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr10:44756600-44760200	Enhancers	Adipose Nuclei	Adipose
10	chr10:44756800-44759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:44757000-44758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:44757000-44758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:44757200-44758400	Enhancers	Lung	lung
14	chr10:44757200-44759600	Enhancers	GM12878-XiMat	blood
15	chr10:44757200-44760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:44757400-44759600	Enhancers	Stomach Smooth Muscle	stomach
17	chr10:44757400-44760400	Enhancers	Fetal Stomach	stomach
18	chr10:44757600-44759000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr10:44757800-44758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:44757800-44759000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:44757800-44759000	Weak transcription	HSMMtube	muscle
22	chr10:44757800-44759200	Weak transcription	Placenta	Placenta
23	chr10:44757800-44759600	Weak transcription	Left Ventricle	heart
24	chr10:44757800-44760200	Enhancers	Osteobl	bone
25	chr10:44758000-44758400	Weak transcription	NHLF	lung
26	chr10:44758000-44758600	Weak transcription	Fetal Muscle Leg	muscle
27	chr10:44758200-44759600	Weak transcription	Fetal Heart	heart

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