Variant report

Variant	rs4568212
Chromosome Location	chr4:74571141-74571142
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	CEBPB	chr4:74569871-74571304	HCT-116	colon:	n/a	chr4:74570462-74570471 chr4:74570462-74570471 chr4:74570460-74570473 chr4:74570460-74570471 chr4:74570462-74570471 chr4:74570462-74570471
2	RAD21	chr4:74569953-74571157	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr4:74569522-74571531	ECC-1	luminal epithelium:	n/a	chr4:74571010-74571019 chr4:74570071-74570080 chr4:74570617-74570631 chr4:74571329-74571343
4	NFIC	chr4:74569664-74571258	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr4:74569905-74571240	SK-N-SH	brain:	n/a	n/a
6	JUND	chr4:74570020-74571170	SK-N-SH	brain:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
7	FOS	chr4:74569936-74571269	HUVEC	blood vessel:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
8	TCF12	chr4:74569978-74571230	SK-N-SH	brain:	n/a	chr4:74570473-74570483
9	ESR1	chr4:74570824-74571145	ECC-1	luminal epithelium:	n/a	n/a
10	FOSL2	chr4:74569885-74571214	A549	lung:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
11	FOS	chr4:74569883-74571176	MCF10A-Er-Src	breast:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
12	EP300	chr4:74569677-74571296	ECC-1	luminal epithelium:	n/a	chr4:74571010-74571019 chr4:74570071-74570080 chr4:74570617-74570631
13	TCF12	chr4:74569570-74571360	ECC-1	luminal epithelium:	n/a	chr4:74570473-74570483
14	TEAD4	chr4:74569663-74571319	ECC-1	luminal epithelium:	n/a	n/a
15	JUND	chr4:74569856-74571240	HCT-116	colon:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
16	NFIC	chr4:74569497-74571384	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr4:74569901-74571355	SK-N-SH	brain:	n/a	chr4:74571010-74571019 chr4:74570071-74570080 chr4:74570617-74570631 chr4:74571329-74571343
18	GATA3	chr4:74569839-74571386	SK-N-SH	brain:	n/a	chr4:74570619-74570629
19	POLR2A	chr4:74569941-74571240	U87	brain:	n/a	n/a
20	JUND	chr4:74570058-74571156	Hela-S3	cervix:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
21	FOXM1	chr4:74569537-74571420	ECC-1	luminal epithelium:	n/a	n/a
22	FOXM1	chr4:74569477-74571455	ECC-1	luminal epithelium:	n/a	n/a
23	RXRA	chr4:74570003-74571153	SK-N-SH	brain:	n/a	chr4:74570650-74570659 chr4:74571010-74571019
24	TEAD4	chr4:74569756-74571244	ECC-1	luminal epithelium:	n/a	n/a
25	FOS	chr4:74569911-74571167	MCF10A-Er-Src	breast:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
26	JUND	chr4:74569859-74571270	SK-N-SH	brain:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
27	TCF12	chr4:74569771-74571231	ECC-1	luminal epithelium:	n/a	chr4:74570473-74570483
28	SP1	chr4:74569812-74571176	HCT-116	colon:	n/a	n/a
29	FOS	chr4:74570053-74571167	MCF10A-Er-Src	breast:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
30	JUND	chr4:74570556-74571190	H1-hESC	embryonic stem cell:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
31	GATA3	chr4:74570000-74571279	SK-N-SH	brain:	n/a	chr4:74570619-74570629
32	FOSL1	chr4:74569941-74571301	HCT-116	colon:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
33	JUN	chr4:74570093-74571194	HUVEC	blood vessel:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
34	FOSL2	chr4:74570043-74571209	SK-N-SH	brain:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019
35	CEBPB	chr4:74569793-74571413	ECC-1	luminal epithelium:	n/a	chr4:74570462-74570471 chr4:74570462-74570471 chr4:74570460-74570473 chr4:74570460-74570471 chr4:74570462-74570471 chr4:74570462-74570471
36	PBX3	chr4:74570028-74571190	SK-N-SH	brain:	n/a	n/a
37	MAX	chr4:74569802-74571150	ECC-1	luminal epithelium:	n/a	chr4:74571010-74571019
38	POLR2A	chr4:74569870-74571177	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr4:74569941-74571166	U87	brain:	n/a	n/a
40	TCF12	chr4:74569938-74571356	SK-N-SH	brain:	n/a	chr4:74570473-74570483
41	GATA2	chr4:74570042-74571383	HUVEC	blood vessel:	n/a	chr4:74570619-74570629
42	JUND	chr4:74570046-74571230	SK-N-SH	brain:	n/a	chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571019 chr4:74571009-74571018 chr4:74571009-74571019

No.	Distal block	Cell Line	Cell type
1	chr4:74558633..74562298-chr4:74570528..74572669,3	MCF-7	breast:
2	chr4:74548585..74551184-chr4:74569612..74572509,2	MCF-7	breast:
3	chr4:74570144..74571742-chr4:74963833..74965447,2	K562	blood:
4	chr4:74563931..74567096-chr4:74570167..74572895,3	K562	blood:
5	chr4:74569886..74571730-chr4:74572414..74575134,2	MCF-7	breast:
6	chr4:74570843..74573608-chr4:74593259..74594924,2	K562	blood:

Variant related genes	Relation type
ENSG00000228277	TF binding region
ENSG00000081041	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029200	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10938089	0.96[ASN][1000 genomes]
rs10938091	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11938646	0.96[ASN][1000 genomes]
rs1247605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247633	0.96[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247687	0.98[ASN][1000 genomes]
rs1247689	0.95[ASN][1000 genomes]
rs12508451	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12642878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358594	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1406498	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528910	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951703	0.98[ASN][1000 genomes]
rs1951704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951705	0.98[ASN][1000 genomes]
rs2091587	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141467	0.98[ASN][1000 genomes]
rs2141468	0.96[ASN][1000 genomes]
rs2178291	0.98[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886918	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4127802	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259030	0.95[ASN][1000 genomes]
rs4637366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694633	0.98[ASN][1000 genomes]
rs56785010	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61101665	0.98[ASN][1000 genomes]
rs6446950	0.87[ASN][1000 genomes]
rs6446951	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6818711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857472	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72865497	0.98[ASN][1000 genomes]
rs72865502	0.98[ASN][1000 genomes]
rs7655660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7656608	0.96[ASN][1000 genomes]
rs7657356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	0.96[ASN][1000 genomes]
rs7660923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678307	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681924	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7682745	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7683759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689702	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942051	0.98[ASN][1000 genomes]
rs9991585	1.00[EUR][1000 genomes];0.92[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74566800-74571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:74566800-74574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:74566800-74575400	Enhancers	HMEC	breast
4	chr4:74567400-74572000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:74567400-74572200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:74567800-74574000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:74568000-74573800	Enhancers	NHEK	skin
8	chr4:74568000-74574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:74568200-74574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:74568200-74574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:74568400-74572200	Enhancers	HSMM	muscle
12	chr4:74568400-74574600	Enhancers	NHLF	lung
13	chr4:74568600-74572000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:74568800-74572000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:74569200-74571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:74569200-74572200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:74569600-74572200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:74569600-74572400	Enhancers	HSMMtube	muscle
20	chr4:74569800-74571200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:74569800-74571400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:74569800-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:74570000-74571200	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:74570000-74571400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:74570000-74571400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:74570000-74571600	Enhancers	Small Intestine	intestine
27	chr4:74570000-74571800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:74570000-74571800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:74570000-74572200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:74570000-74575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:74570200-74571400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:74570200-74571400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:74570200-74571600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:74570400-74571200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:74570400-74571600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:74570400-74573800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:74570400-74573800	Enhancers	Hela-S3	cervix
38	chr4:74570400-74574000	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:74570600-74571400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:74570600-74571400	Enhancers	Primary B cells from cord blood	blood
41	chr4:74570600-74571400	Flanking Active TSS	HUVEC	blood vessel
42	chr4:74570600-74571600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:74570600-74572600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:74570600-74574000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:74570600-74578600	Enhancers	K562	blood
46	chr4:74570600-74581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:74570800-74571400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:74570800-74571400	Enhancers	Fetal Muscle Leg	muscle
49	chr4:74570800-74571400	Enhancers	Right Atrium	heart
50	chr4:74570800-74572000	Enhancers	Duodenum Smooth Muscle	Duodenum

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