Variant report

Variant	rs2227307
Chromosome Location	chr4:74606669-74606670
allele	G/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: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10005565	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009462	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009488	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10010970	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10012962	0.82[ASN][1000 genomes]
rs10015626	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10019318	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031141	0.82[EUR][1000 genomes]
rs10938092	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10938094	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10938095	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10938096	0.80[ASN][1000 genomes]
rs10938097	0.91[ASN][1000 genomes]
rs10938100	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1126647	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11730284	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730560	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11730667	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11938389	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12503139	0.80[ASN][1000 genomes]
rs12644561	0.80[ASN][1000 genomes]
rs13106097	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13109146	0.83[ASN][1000 genomes]
rs13109377	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112910	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116536	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13117876	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13151869	0.80[ASN][1000 genomes]
rs16849928	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849945	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16849958	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951235	0.82[ASN][1000 genomes]
rs1951236	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951240	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951242	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957070	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1957661	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145617	0.82[ASN][1000 genomes]
rs2224434	0.82[ASN][1000 genomes]
rs2227306	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227521	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227543	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2367276	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28609798	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28612337	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2886920	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2886922	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279174	0.82[ASN][1000 genomes]
rs4549349	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694178	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694636	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694637	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62312370	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446959	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6446960	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6820848	0.88[ASN][1000 genomes]
rs6853679	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689435	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9999262	0.82[ASN][1000 genomes]
rs9999446	0.80[EUR][1000 genomes];0.92[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74605400-74606800	Enhancers	NH-A	brain
2	chr4:74605400-74607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:74605400-74607400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:74605800-74607400	Flanking Active TSS	HUVEC	blood vessel
5	chr4:74606000-74606800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:74606000-74607400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:74606000-74607400	Enhancers	Osteobl	bone
8	chr4:74606200-74606800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:74606200-74607000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:74606200-74607000	Active TSS	Hela-S3	cervix
11	chr4:74606200-74607400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr4:74606200-74607400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:74606200-74607400	Enhancers	Dnd41	blood
14	chr4:74606200-74607400	Flanking Active TSS	HMEC	breast
15	chr4:74606200-74607400	Flanking Active TSS	NHEK	skin
16	chr4:74606200-74607600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:74606200-74608000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:74606200-74608400	Active TSS	Primary B cells from cord blood	blood
19	chr4:74606200-74610200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr4:74606400-74606800	Active TSS	A549	lung
21	chr4:74606400-74606800	Enhancers	HSMM	muscle
22	chr4:74606400-74607400	Enhancers	K562	blood
23	chr4:74606400-74609400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:74606400-74616800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:74606600-74606800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:74606600-74607200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:74606600-74607200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:74606600-74607400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:74606600-74607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:74606600-74607400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:74606600-74607800	Active TSS	Primary hematopoietic stem cells	blood

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