Variant report

Variant	rs57932384
Chromosome Location	chr1:226038233-226038234
allele	C/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	POLR2A	chr1:226038216-226038246	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:226037446-226038356	K562	blood:	n/a	n/a
3	CBX3	chr1:226038080-226038524	K562	blood:	n/a	n/a
4	CBX3	chr1:226038164-226038400	K562	blood:	n/a	n/a
5	FOXA2	chr1:226038066-226038386	A549	lung:	n/a	n/a
6	NANOG	chr1:226038083-226038359	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr1:226037714-226038470	A549	lung:	n/a	chr1:226037878-226037891 chr1:226037946-226037955
8	POLR2A	chr1:226029446-226038446	K562	blood:	n/a	n/a
9	POLR2A	chr1:226037147-226038397	K562	blood:	n/a	n/a
10	FOXA1	chr1:226038017-226038521	HepG2	liver:	n/a	n/a
11	FOXA2	chr1:226038061-226038377	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:226030670-226038260	A549	lung:	n/a	n/a

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000242861	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10047091	0.90[EUR][1000 genomes]
rs12061043	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12071072	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12071104	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074209	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074247	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12075664	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236143	0.87[EUR][1000 genomes]
rs2271544	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292560	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292561	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292568	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28384446	0.92[EUR][1000 genomes]
rs28384447	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28384448	0.95[EUR][1000 genomes]
rs28384449	0.95[EUR][1000 genomes]
rs360084	0.99[ASN][1000 genomes]
rs360087	0.99[ASN][1000 genomes]
rs360089	0.99[ASN][1000 genomes]
rs3738050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753663	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753666	0.92[EUR][1000 genomes]
rs3753668	0.90[EUR][1000 genomes]
rs3753670	0.90[EUR][1000 genomes]
rs3766935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766940	0.95[EUR][1000 genomes]
rs3766941	0.90[EUR][1000 genomes]
rs3806257	0.90[EUR][1000 genomes]
rs3806258	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41310561	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4149227	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4149228	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4149230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45467394	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56231004	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56301120	0.97[ASN][1000 genomes]
rs56325807	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57095220	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59728172	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60847271	0.95[EUR][1000 genomes]
rs60943392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61033712	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61227102	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61295362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6664740	0.90[EUR][1000 genomes]
rs74150536	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514448	0.90[EUR][1000 genomes]
rs7516538	0.90[EUR][1000 genomes]
rs805179	0.99[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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
3	chr1:226016000-226051000	Weak transcription	NH-A	brain
4	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
5	chr1:226020600-226042000	Weak transcription	Hela-S3	cervix
6	chr1:226020600-226042400	Weak transcription	HSMM	muscle
7	chr1:226023000-226039600	Weak transcription	NHDF-Ad	bronchial
8	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:226029800-226050600	Strong transcription	Right Ventricle	heart
10	chr1:226030000-226040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:226030200-226039000	Genic enhancers	Brain Substantia Nigra	brain
12	chr1:226030400-226046800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:226030400-226052600	Weak transcription	HSMMtube	muscle
14	chr1:226030600-226039400	Strong transcription	Liver	Liver
15	chr1:226031800-226039600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:226032400-226039000	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr1:226033200-226039800	Genic enhancers	Brain Cingulate Gyrus	brain
18	chr1:226033600-226041600	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr1:226033600-226053000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:226033800-226038600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:226033800-226039200	Strong transcription	HepG2	liver
22	chr1:226033800-226039600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:226033800-226040400	Weak transcription	HMEC	breast
24	chr1:226033800-226041000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr1:226034000-226039200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:226034000-226056800	Strong transcription	Adipose Nuclei	Adipose
28	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:226034200-226039600	Weak transcription	Ovary	ovary
30	chr1:226034200-226039800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:226034200-226040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:226034600-226047600	Weak transcription	NHEK	skin
34	chr1:226034800-226040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:226035200-226038600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:226035200-226039200	Genic enhancers	Fetal Lung	lung
37	chr1:226035200-226039800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:226035600-226038400	Genic enhancers	K562	blood
39	chr1:226035800-226039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:226036000-226039600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:226036000-226039600	Weak transcription	Fetal Kidney	kidney
42	chr1:226036000-226039800	Genic enhancers	Fetal Stomach	stomach
43	chr1:226036000-226040200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:226036000-226049000	Weak transcription	A549	lung
45	chr1:226036200-226038800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:226036200-226039600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:226036400-226038400	Genic enhancers	Brain Hippocampus Middle	brain
48	chr1:226036400-226039400	Weak transcription	Osteobl	bone
49	chr1:226036400-226043200	Strong transcription	Fetal Intestine Large	intestine
50	chr1:226036600-226038600	Enhancers	Thymus	Thymus

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