Variant report

Variant	rs4285054
Chromosome Location	chr4:74572458-74572459
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74572069..74574154-chr4:75022228..75024070,2	MCF-7	breast:
2	chr4:74571713..74573594-chr4:74589343..74591305,2	K562	blood:
3	chr4:74571666..74575174-chr4:74576525..74580241,3	K562	blood:
4	chr4:74558633..74562298-chr4:74570528..74572669,3	MCF-7	breast:
5	chr4:74569886..74571730-chr4:74572414..74575134,2	MCF-7	breast:
6	chr4:74548585..74551184-chr4:74569612..74572509,2	MCF-7	breast:
7	chr4:74563931..74567096-chr4:74570167..74572895,3	K562	blood:
8	chr4:74571202..74573286-chr4:75023771..75025563,2	K562	blood:
9	chr4:74570843..74573608-chr4:74593259..74594924,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10019994	1.00[ASN][1000 genomes]
rs1247684	1.00[ASN][1000 genomes]
rs1406499	1.00[ASN][1000 genomes]
rs1745250	1.00[ASN][1000 genomes]
rs2463883	1.00[ASN][1000 genomes]
rs4694634	1.00[ASN][1000 genomes]
rs59078835	1.00[ASN][1000 genomes]
rs59640098	1.00[ASN][1000 genomes]
rs59879767	1.00[ASN][1000 genomes]
rs6446943	1.00[ASN][1000 genomes]
rs6446952	1.00[ASN][1000 genomes]
rs6817222	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6818282	1.00[ASN][1000 genomes]
rs6826734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848823	1.00[ASN][1000 genomes]
rs6855652	1.00[ASN][1000 genomes]
rs72858926	1.00[ASN][1000 genomes]
rs72858930	1.00[ASN][1000 genomes]
rs72858933	1.00[ASN][1000 genomes]
rs72858937	1.00[ASN][1000 genomes]
rs72858939	1.00[ASN][1000 genomes]
rs72858993	1.00[ASN][1000 genomes]
rs72863008	1.00[ASN][1000 genomes]
rs72863014	1.00[ASN][1000 genomes]
rs72863061	1.00[ASN][1000 genomes]
rs72863074	1.00[ASN][1000 genomes]
rs72863084	1.00[ASN][1000 genomes]
rs72863086	1.00[ASN][1000 genomes]
rs72863093	1.00[ASN][1000 genomes]
rs72865421	1.00[ASN][1000 genomes]
rs72865434	1.00[ASN][1000 genomes]
rs72865438	1.00[ASN][1000 genomes]
rs72865440	1.00[ASN][1000 genomes]
rs72865454	1.00[ASN][1000 genomes]
rs72865456	1.00[ASN][1000 genomes]
rs72865458	1.00[ASN][1000 genomes]
rs72865462	1.00[ASN][1000 genomes]
rs72865466	1.00[ASN][1000 genomes]
rs72865471	1.00[ASN][1000 genomes]
rs72865474	1.00[ASN][1000 genomes]
rs72865476	1.00[ASN][1000 genomes]
rs72865480	1.00[ASN][1000 genomes]
rs72865485	1.00[ASN][1000 genomes]
rs72865492	1.00[ASN][1000 genomes]
rs7663473	1.00[ASN][1000 genomes]
rs7663880	1.00[ASN][1000 genomes]
rs7666794	1.00[ASN][1000 genomes]
rs7680894	1.00[ASN][1000 genomes]
rs7681278	1.00[ASN][1000 genomes]
rs7684080	1.00[ASN][1000 genomes]
rs7698909	1.00[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:52 , 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	chr4:74567800-74574000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:74568000-74573800	Enhancers	NHEK	skin
5	chr4:74568000-74574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:74568200-74574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:74568200-74574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74568400-74574600	Enhancers	NHLF	lung
9	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:74569800-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:74570000-74575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:74570400-74573800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:74570400-74573800	Enhancers	Hela-S3	cervix
14	chr4:74570400-74574000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:74570600-74572600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:74570600-74574000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:74570600-74578600	Enhancers	K562	blood
18	chr4:74570600-74581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:74570800-74573200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:74571000-74573000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:74571000-74573000	Enhancers	A549	lung
22	chr4:74571000-74573200	Weak transcription	Aorta	Aorta
23	chr4:74571000-74573400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:74571000-74573400	Weak transcription	Adipose Nuclei	Adipose
25	chr4:74571000-74573400	Weak transcription	Placenta	Placenta
26	chr4:74571000-74573400	Weak transcription	Stomach Mucosa	stomach
27	chr4:74571000-74573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:74571000-74574200	Weak transcription	Pancreas	Pancrea
29	chr4:74571200-74573600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:74571400-74573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:74571400-74573400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:74571400-74573400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:74571400-74573400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:74571400-74573800	Enhancers	HUVEC	blood vessel
35	chr4:74571400-74574000	Weak transcription	Primary B cells from cord blood	blood
36	chr4:74571400-74574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:74571400-74574600	Enhancers	NHDF-Ad	bronchial
38	chr4:74571400-74574600	Enhancers	Osteobl	bone
39	chr4:74571600-74573200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:74571600-74573400	Weak transcription	Small Intestine	intestine
41	chr4:74571600-74573600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:74571800-74573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:74572000-74573000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:74572000-74573200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:74572200-74572600	Weak transcription	NH-A	brain
46	chr4:74572200-74573200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:74572200-74573200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:74572200-74573200	Weak transcription	HSMM	muscle
49	chr4:74572400-74572800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:74572400-74572800	Weak transcription	Primary hematopoietic stem cells	blood

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