Variant report

Variant	rs62272249
Chromosome Location	chr3:160169593-160169594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:160169419-160169619	K562	blood:	n/a	n/a
2	MAX	chr3:160169419-160169666	K562	blood:	n/a	n/a
3	RCOR1	chr3:160169401-160169888	K562	blood:	n/a	n/a
4	MAFF	chr3:160169434-160169612	K562	blood:	n/a	n/a
5	ZMIZ1	chr3:160169478-160169618	K562	blood:	n/a	n/a
6	MAX	chr3:160169472-160169764	K562	blood:	n/a	n/a
7	TEAD4	chr3:160169277-160169814	K562	blood:	n/a	n/a
8	POLR2A	chr3:160169411-160169827	K562	blood:	n/a	n/a
9	MAX	chr3:160169380-160169799	K562	blood:	n/a	n/a
10	TBL1XR1	chr3:160169415-160169650	K562	blood:	n/a	n/a
11	MYC	chr3:160169380-160169750	K562	blood:	n/a	n/a
12	MYC	chr3:160169436-160169745	K562	blood:	n/a	n/a
13	EP300	chr3:160169349-160169718	K562	blood:	n/a	n/a
14	CBX3	chr3:160169370-160169910	K562	blood:	n/a	n/a
15	E2F6	chr3:160169497-160169698	K562	blood:	n/a	n/a
16	MXI1	chr3:160169482-160169649	K562	blood:	n/a	n/a
17	BHLHE40	chr3:160169495-160169595	K562	blood:	n/a	n/a
18	JUND	chr3:160169389-160169732	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160116116..160127665-chr3:160158037..160169627,42	K562	blood:
2	chr3:160167035..160169821-chr3:160232708..160234646,2	K562	blood:
3	chr3:160113853..160115916-chr3:160167790..160169810,2	K562	blood:
4	chr3:160164471..160170330-chr3:160281681..160284179,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244009	TF binding region
TRIM59	TF binding region
ENSG00000248710	TF binding region
ENSG00000068885	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000207779	Chromatin interaction
ENSG00000238741	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000198987	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10513550	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11920289	0.89[EUR][1000 genomes]
rs12233589	0.89[EUR][1000 genomes]
rs2275153	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305401	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33999879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736627	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3773371	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806629	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41272959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55815116	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56119270	0.89[EUR][1000 genomes]
rs56124988	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56150006	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56343019	0.86[ASN][1000 genomes]
rs56396435	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56401539	0.96[EUR][1000 genomes]
rs57030267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57050097	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57277659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57285344	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57328745	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57555307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58377812	0.86[AMR][1000 genomes]
rs58627305	0.89[EUR][1000 genomes]
rs58654032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58776572	0.96[EUR][1000 genomes]
rs58915028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59695030	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59799252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60066272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60153357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60222090	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60517889	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60607858	0.96[EUR][1000 genomes]
rs60640467	0.87[AFR][1000 genomes]
rs60914777	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61066536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272169	0.96[ASN][1000 genomes]
rs62272171	0.84[AMR][1000 genomes]
rs62272176	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272179	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272180	0.89[EUR][1000 genomes]
rs62272181	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62272185	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272187	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272188	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272190	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272191	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272193	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272197	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272198	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272207	0.89[EUR][1000 genomes]
rs62272231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272243	0.84[AMR][1000 genomes]
rs62272245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62272251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272253	0.84[AMR][1000 genomes]
rs62272254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62272255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62272256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62272257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62272258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62272259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62272780	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272781	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272783	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272790	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272793	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62272799	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62272804	0.86[ASN][1000 genomes]
rs62272805	0.86[ASN][1000 genomes]
rs62272806	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272831	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272833	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272836	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272838	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66769612	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66850724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67403526	0.82[ASN][1000 genomes]
rs68069205	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73154564	0.84[AMR][1000 genomes]
rs73154582	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73154583	1.00[AFR][1000 genomes]
rs73154587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73155914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7614701	0.89[EUR][1000 genomes]
rs7618017	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7645798	0.89[EUR][1000 genomes]
rs7648832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9637414	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160168000-160169800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:160168400-160169600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:160168400-160169600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:160168400-160170200	Weak transcription	Lung	lung
5	chr3:160168400-160172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:160168400-160172600	Weak transcription	Brain Substantia Nigra	brain
7	chr3:160168400-160172800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:160168600-160169600	Flanking Active TSS	K562	blood
9	chr3:160168600-160169600	Enhancers	NHLF	lung
10	chr3:160168600-160169800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:160168600-160169800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:160168600-160169800	Enhancers	HSMM	muscle
13	chr3:160168600-160169800	Enhancers	HUVEC	blood vessel
14	chr3:160168600-160169800	Enhancers	NHDF-Ad	bronchial
15	chr3:160168600-160170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:160168800-160169600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:160168800-160169600	Enhancers	HSMMtube	muscle
18	chr3:160168800-160169600	Enhancers	NH-A	brain
19	chr3:160168800-160169600	Enhancers	Osteobl	bone
20	chr3:160168800-160169800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:160168800-160169800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:160168800-160169800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:160169200-160169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:160169200-160169600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:160169400-160169600	Enhancers	Hela-S3	cervix

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