Variant report

Variant	rs61295362
Chromosome Location	chr1:226052148-226052149
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	MAFK	chr1:226052101-226052377	HepG2	liver:	n/a	n/a
2	JUN	chr1:226052015-226052333	HUVEC	blood vessel:	n/a	n/a
3	FOSL2	chr1:226051898-226052303	HepG2	liver:	n/a	n/a
4	JUND	chr1:226052033-226052252	H1-hESC	embryonic stem cell:	n/a	chr1:226052184-226052195
5	JUND	chr1:226052070-226052240	HepG2	liver:	n/a	chr1:226052184-226052195
6	STAT3	chr1:226052034-226052254	MCF10A-Er-Src	breast:	n/a	chr1:226052102-226052113
7	JUND	chr1:226051997-226052377	HepG2	liver:	n/a	chr1:226052184-226052195
8	MAFF	chr1:226052039-226052293	HepG2	liver:	n/a	n/a
9	FOSL2	chr1:226051922-226052317	MCF-7	breast:	n/a	n/a
10	JUND	chr1:226052056-226052319	K562	blood:	n/a	chr1:226052184-226052195
11	FOSL2	chr1:226051995-226052298	A549	lung:	n/a	n/a
12	JUND	chr1:226052004-226052256	HepG2	liver:	n/a	chr1:226052184-226052195
13	JUN	chr1:226052015-226052349	HepG2	liver:	n/a	n/a
14	FOSL2	chr1:226051860-226052518	A549	lung:	n/a	n/a
15	FOS	chr1:226052001-226052375	MCF10A-Er-Src	breast:	n/a	chr1:226052184-226052195
16	FOSL2	chr1:226051902-226052491	SK-N-SH	brain:	n/a	n/a
17	JUN	chr1:226052019-226052331	K562	blood:	n/a	n/a
18	FOSL2	chr1:226051965-226052304	HepG2	liver:	n/a	n/a
19	JUND	chr1:226051687-226052417	SK-N-SH	brain:	n/a	chr1:226052184-226052195
20	FOS	chr1:226052006-226052406	MCF10A-Er-Src	breast:	n/a	chr1:226052184-226052195
21	FOS	chr1:226052007-226052374	MCF10A-Er-Src	breast:	n/a	chr1:226052184-226052195
22	FOS	chr1:226052022-226052375	MCF10A-Er-Src	breast:	n/a	chr1:226052184-226052195
23	MAFK	chr1:226051968-226052497	IMR90	lung:	n/a	n/a
24	MAFK	chr1:226051929-226052331	HepG2	liver:	n/a	n/a
25	KAP1	chr1:226051963-226052593	U2OS	brain:	n/a	n/a
26	STAT3	chr1:226052028-226052311	MCF10A-Er-Src	breast:	n/a	chr1:226052102-226052113
27	FOS	chr1:226052008-226052381	HUVEC	blood vessel:	n/a	chr1:226052184-226052195

No.	Distal block	Cell Line	Cell type
1	chr1:226049743..226051440-chr1:226051504..226053269,2	K562	blood:
2	chr1:226042955..226044481-chr1:226050392..226052677,2	MCF-7	breast:
3	chr1:225965000..225971731-chr1:226051573..226055609,6	K562	blood:
4	chr1:226050607..226053487-chr1:226058918..226061086,2	K562	blood:

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000143742	Chromatin interaction

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];0.90[ASN][1000 genomes]
rs12071072	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12071104	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12074209	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12074247	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12075664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236143	0.87[EUR][1000 genomes]
rs2271544	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292560	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292568	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28384446	0.92[EUR][1000 genomes]
rs28384447	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28384448	0.95[EUR][1000 genomes]
rs28384449	0.95[EUR][1000 genomes]
rs360084	1.00[ASN][1000 genomes]
rs360087	1.00[ASN][1000 genomes]
rs360089	1.00[ASN][1000 genomes]
rs3738050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753663	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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];1.00[ASN][1000 genomes]
rs3766936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.91[ASN][1000 genomes]
rs41310561	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4149227	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149228	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45467394	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56231004	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56301120	0.99[ASN][1000 genomes]
rs56325807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57095220	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57932384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59728172	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60847271	0.95[EUR][1000 genomes]
rs60943392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61033712	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61227102	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664740	0.90[EUR][1000 genomes]
rs74150536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514448	0.90[EUR][1000 genomes]
rs7516538	0.90[EUR][1000 genomes]
rs805179	1.00[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:124 , 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	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:226030400-226052600	Weak transcription	HSMMtube	muscle
4	chr1:226033600-226053000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr1:226034000-226056800	Strong transcription	Adipose Nuclei	Adipose
7	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
10	chr1:226036800-226058600	Weak transcription	Brain Germinal Matrix	brain
11	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
12	chr1:226037000-226054200	Weak transcription	Small Intestine	intestine
13	chr1:226037600-226060600	Strong transcription	Placenta	Placenta
14	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
15	chr1:226038000-226052400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:226038400-226059600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:226038600-226054800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:226039000-226063200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:226039400-226053000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:226039400-226053200	Strong transcription	Thymus	Thymus
23	chr1:226039600-226053800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:226039600-226059800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:226039600-226062200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:226039600-226063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:226039800-226053800	Strong transcription	Fetal Stomach	stomach
28	chr1:226040400-226053400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:226040600-226053000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:226040600-226053400	Strong transcription	Primary T cells from cord blood	blood
31	chr1:226040800-226052200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:226040800-226053400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:226040800-226053400	Weak transcription	HMEC	breast
34	chr1:226041000-226053000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:226041000-226053000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:226041200-226053800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:226044200-226053400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:226044400-226053400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:226044400-226062800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:226044600-226052800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:226044600-226053000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:226044600-226053600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:226044600-226056400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:226044800-226052800	Strong transcription	Fetal Thymus	thymus
47	chr1:226044800-226053000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:226045000-226060800	Strong transcription	Liver	Liver
49	chr1:226046200-226053800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:226046200-226057200	Strong transcription	K562	blood

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