Variant report

Variant	rs72867148
Chromosome Location	chr4:74597008-74597009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74596320..74599245-chr4:74921002..74922531,2	K562	blood:
2	chr4:74596146..74598686-chr4:74599662..74602190,5	K562	blood:
3	chr4:74591810..74594488-chr4:74595060..74600715,5	MCF-7	breast:
4	chr4:74591962..74597555-chr4:74604207..74608035,5	K562	blood:
5	chr4:74596146..74597922-chr4:74599662..74601519,2	K562	blood:

Variant related genes	Relation type
ENSG00000169429	Chromatin interaction
ENSG00000248848	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11940656	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11944402	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2227538	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57596152	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6446956	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6446957	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7693566	0.99[AFR][1000 genomes];1.00[AMR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74592400-74597200	Weak transcription	Pancreas	Pancrea
2	chr4:74592400-74600000	Weak transcription	Psoas Muscle	Psoas
3	chr4:74592400-74600000	Weak transcription	NHLF	lung
4	chr4:74593600-74597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:74594600-74598000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:74595000-74598000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:74595000-74598400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:74595000-74602400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:74595200-74597200	Weak transcription	Left Ventricle	heart
10	chr4:74595200-74597200	Enhancers	NHDF-Ad	bronchial
11	chr4:74595200-74597400	Enhancers	Primary B cells from cord blood	blood
12	chr4:74595200-74598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:74595200-74601800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:74595400-74597200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:74595400-74597600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:74595400-74598600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:74595400-74600000	Weak transcription	Right Atrium	heart
18	chr4:74595600-74597200	Weak transcription	Fetal Thymus	thymus
19	chr4:74595600-74598600	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:74595800-74598000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:74595800-74600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:74595800-74600000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:74595800-74600000	Weak transcription	Osteobl	bone
24	chr4:74595800-74600200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:74596200-74600200	Weak transcription	HSMMtube	muscle
26	chr4:74596200-74600400	Weak transcription	HMEC	breast
27	chr4:74596400-74597800	Weak transcription	HUVEC	blood vessel
28	chr4:74596400-74598400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:74596400-74600000	Weak transcription	HSMM	muscle
30	chr4:74596400-74600400	Weak transcription	A549	lung
31	chr4:74596400-74600600	Weak transcription	NHEK	skin
32	chr4:74596400-74605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:74596400-74606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:74596600-74597800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:74596600-74597800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:74597000-74597400	Enhancers	Lung	lung
37	chr4:74597000-74597400	Enhancers	Spleen	Spleen
38	chr4:74597000-74597600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr4:74597000-74598400	Enhancers	K562	blood
40	chr4:74597000-74598800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:74597000-74600600	Weak transcription	Hela-S3	cervix

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