Variant report

Variant	rs1528913
Chromosome Location	chr4:74569231-74569232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74563007..74566093-chr4:74566214..74569321,4	K562	blood:
2	chr4:74562881..74566093-chr4:74566845..74569555,4	K562	blood:
3	chr4:74568145..74570838-chr4:74686420..74688170,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029200	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10938089	0.96[ASN][1000 genomes]
rs10938091	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722921	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11938646	0.96[ASN][1000 genomes]
rs1247605	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247608	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247611	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247620	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247633	0.96[ASN][1000 genomes]
rs1247634	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1247635	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247687	0.98[ASN][1000 genomes]
rs1247689	0.95[ASN][1000 genomes]
rs12508451	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12642878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643076	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269764	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358594	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1406498	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528910	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729722	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1745246	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951703	0.98[ASN][1000 genomes]
rs1951704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951705	0.98[ASN][1000 genomes]
rs2091587	0.98[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	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886918	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4127802	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259030	0.95[ASN][1000 genomes]
rs4568212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694633	0.98[ASN][1000 genomes]
rs56785010	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61101665	0.98[ASN][1000 genomes]
rs6446950	0.87[ASN][1000 genomes]
rs6446951	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446953	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446954	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6818711	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857472	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720702	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72865497	0.98[ASN][1000 genomes]
rs72865502	0.98[ASN][1000 genomes]
rs7655660	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7656608	0.96[ASN][1000 genomes]
rs7657356	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	0.96[ASN][1000 genomes]
rs7660923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678307	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681924	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681932	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7682745	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7683759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689702	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942051	0.98[ASN][1000 genomes]
rs9991585	0.98[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74564000-74570200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:74564600-74570000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:74564800-74569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:74564800-74569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:74566800-74570600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:74566800-74571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:74566800-74574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:74566800-74575400	Enhancers	HMEC	breast
9	chr4:74567000-74570000	Enhancers	Hela-S3	cervix
10	chr4:74567000-74570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74567200-74569600	Weak transcription	HSMMtube	muscle
12	chr4:74567200-74569800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:74567200-74570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:74567400-74569800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:74567400-74570000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:74567400-74572000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:74567400-74572200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:74567600-74569600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:74567800-74574000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:74568000-74570800	Enhancers	Osteobl	bone
21	chr4:74568000-74573800	Enhancers	NHEK	skin
22	chr4:74568000-74574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:74568200-74570200	Enhancers	K562	blood
24	chr4:74568200-74570600	Enhancers	HUVEC	blood vessel
25	chr4:74568200-74574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:74568200-74574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:74568400-74569800	Enhancers	A549	lung
28	chr4:74568400-74570000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:74568400-74570000	Enhancers	NH-A	brain
30	chr4:74568400-74570200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:74568400-74570800	Enhancers	NHDF-Ad	bronchial
32	chr4:74568400-74572200	Enhancers	HSMM	muscle
33	chr4:74568400-74574600	Enhancers	NHLF	lung
34	chr4:74568600-74572000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:74568800-74569400	Enhancers	Right Atrium	heart
36	chr4:74568800-74572000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:74569000-74569600	Enhancers	Spleen	Spleen
38	chr4:74569000-74570000	Weak transcription	Small Intestine	intestine
39	chr4:74569200-74569400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:74569200-74569400	Enhancers	Pancreas	Pancrea
41	chr4:74569200-74570200	Weak transcription	Placenta	Placenta
42	chr4:74569200-74570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:74569200-74571000	Enhancers	Psoas Muscle	Psoas
44	chr4:74569200-74571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:74569200-74572200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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