Variant report

Variant	rs6446951
Chromosome Location	chr4:74574265-74574266
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	JUN	chr4:74573153-74574729	K562	blood:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
2	EP300	chr4:74573589-74574312	Hela-S3	cervix:	n/a	chr4:74573930-74573944 chr4:74573945-74573959 chr4:74573889-74573898
3	EP300	chr4:74573517-74574534	K562	blood:	n/a	chr4:74573930-74573944 chr4:74573945-74573959 chr4:74573889-74573898 chr4:74574399-74574409
4	IRF1	chr4:74573599-74574403	K562	blood:	n/a	chr4:74573944-74573954 chr4:74573944-74573958
5	POLR2A	chr4:74573583-74574439	HUVEC	blood vessel:	n/a	n/a
6	KAP1	chr4:74573187-74574372	HEK293	kidney:	n/a	chr4:74573821-74573830
7	MAX	chr4:74573512-74574441	A549	lung:	n/a	n/a
8	TFAP2C	chr4:74573315-74574268	Hela-S3	cervix:	n/a	n/a
9	BHLHE40	chr4:74574159-74574288	K562	blood:	n/a	n/a
10	FOS	chr4:74573414-74574312	HUVEC	blood vessel:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829 chr4:74573818-74573829
11	POLR2A	chr4:74573663-74574277	K562	blood:	n/a	n/a
12	GATA1	chr4:74573078-74574293	PBDE	blood:	n/a	chr4:74573786-74573802
13	GATA2	chr4:74573252-74574276	HUVEC	blood vessel:	n/a	chr4:74573786-74573802

No.	Distal block	Cell Line	Cell type
1	chr4:74571666..74575174-chr4:74576525..74580241,3	K562	blood:
2	chr4:74569886..74571730-chr4:74572414..74575134,2	MCF-7	breast:
3	chr4:74561984..74564157-chr4:74572990..74575349,2	K562	blood:
4	chr4:74572825..74575404-chr4:74599407..74602314,2	K562	blood:
5	chr4:74573010..74574962-chr4:74920043..74922609,2	K562	blood:

Variant related genes	Relation type
ENSG00000228277	TF binding region
ENSG00000248848	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	0.95[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	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	0.80[AFR][1000 genomes];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	0.80[AFR][1000 genomes];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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649614	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269764	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	0.80[AFR][1000 genomes];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	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528913	0.90[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[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];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[CEU][hapmap];0.95[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259030	0.95[ASN][1000 genomes]
rs4568212	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694633	0.98[ASN][1000 genomes]
rs56785010	1.00[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]
rs6446953	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857472	0.87[AFR][1000 genomes];1.00[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[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7656608	0.96[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	0.95[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs7660923	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665606	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681924	0.80[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	0.90[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[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74566800-74574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74566800-74575400	Enhancers	HMEC	breast
3	chr4:74568000-74574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:74568200-74574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:74568200-74574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:74568400-74574600	Enhancers	NHLF	lung
7	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:74569800-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:74570000-74575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:74570600-74578600	Enhancers	K562	blood
11	chr4:74570600-74581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:74571400-74574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:74571400-74574600	Enhancers	NHDF-Ad	bronchial
14	chr4:74571400-74574600	Enhancers	Osteobl	bone
15	chr4:74572400-74574400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:74572800-74575600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:74572800-74576000	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:74573000-74574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:74573000-74574400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr4:74573000-74574400	Flanking Active TSS	A549	lung
21	chr4:74573200-74574400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr4:74573200-74574400	Enhancers	Fetal Thymus	thymus
23	chr4:74573200-74574400	Enhancers	Left Ventricle	heart
24	chr4:74573200-74574400	Enhancers	Thymus	Thymus
25	chr4:74573200-74574400	Enhancers	HSMM	muscle
26	chr4:74573200-74574400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:74573200-74576200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:74573400-74574400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:74573400-74574400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:74573400-74574400	Enhancers	Adipose Nuclei	Adipose
31	chr4:74573400-74574400	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:74573400-74574400	Enhancers	Stomach Mucosa	stomach
33	chr4:74573600-74574400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr4:74573800-74574400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:74573800-74574400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:74573800-74574400	Flanking Active TSS	Hela-S3	cervix
37	chr4:74573800-74574400	Flanking Active TSS	HUVEC	blood vessel
38	chr4:74573800-74574400	Flanking Active TSS	NHEK	skin
39	chr4:74574000-74574400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr4:74574000-74574400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:74574000-74574400	Flanking Active TSS	Aorta	Aorta
42	chr4:74574000-74574400	Enhancers	Colon Smooth Muscle	Colon
43	chr4:74574000-74574400	Enhancers	HSMMtube	muscle
44	chr4:74574000-74574800	Enhancers	Primary B cells from cord blood	blood
45	chr4:74574200-74574400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:74574200-74574400	Enhancers	Esophagus	oesophagus
47	chr4:74574200-74574400	Enhancers	Pancreas	Pancrea
48	chr4:74574200-74574400	Flanking Active TSS	NH-A	brain
49	chr4:74574200-74574600	Enhancers	Dnd41	blood
50	chr4:74574200-74575600	Enhancers	Muscle Satellite Cultured Cells	--

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