Variant report

Variant	rs2227538
Chromosome Location	chr4:74606375-74606376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74123296..74125010-chr4:74605307..74607860,2	K562	blood:

Variant related genes	Relation type
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11940656	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11944402	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57596152	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58478511	0.84[AFR][1000 genomes]
rs6446956	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6446957	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72867148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7693566	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][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	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
7	nsv980219	chr4:74603561-74618789	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr4:74605200-74606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74605400-74606400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:74605400-74606600	Enhancers	Adipose Nuclei	Adipose
4	chr4:74605400-74606800	Enhancers	NH-A	brain
5	chr4:74605400-74607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:74605400-74607400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:74605800-74606400	Weak transcription	NHLF	lung
8	chr4:74605800-74606600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:74605800-74606600	Enhancers	Liver	Liver
10	chr4:74605800-74607400	Flanking Active TSS	HUVEC	blood vessel
11	chr4:74606000-74606400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:74606000-74606400	Flanking Active TSS	K562	blood
13	chr4:74606000-74606800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:74606000-74607400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:74606000-74607400	Enhancers	Osteobl	bone
16	chr4:74606200-74606400	Enhancers	Aorta	Aorta
17	chr4:74606200-74606400	Enhancers	Esophagus	oesophagus
18	chr4:74606200-74606400	Enhancers	Left Ventricle	heart
19	chr4:74606200-74606400	Enhancers	Right Atrium	heart
20	chr4:74606200-74606400	Enhancers	Small Intestine	intestine
21	chr4:74606200-74606400	Flanking Active TSS	A549	lung
22	chr4:74606200-74606600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:74606200-74606600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:74606200-74606600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:74606200-74606600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:74606200-74606600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:74606200-74606600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:74606200-74606600	Enhancers	Fetal Thymus	thymus
29	chr4:74606200-74606600	Enhancers	Thymus	Thymus
30	chr4:74606200-74606800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:74606200-74607000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:74606200-74607000	Active TSS	Hela-S3	cervix
33	chr4:74606200-74607400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr4:74606200-74607400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr4:74606200-74607400	Enhancers	Dnd41	blood
36	chr4:74606200-74607400	Flanking Active TSS	HMEC	breast
37	chr4:74606200-74607400	Flanking Active TSS	NHEK	skin
38	chr4:74606200-74607600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr4:74606200-74608000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr4:74606200-74608400	Active TSS	Primary B cells from cord blood	blood
41	chr4:74606200-74610200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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