Variant report

Variant	rs16849945
Chromosome Location	chr4:74615078-74615079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74613567..74615922-chr4:74616921..74619617,2	K562	blood:
2	chr4:74613677..74615255-chr4:74615539..74617498,2	MCF-7	breast:
3	chr4:74612735..74615091-chr4:74635829..74638388,2	K562	blood:
4	chr4:74613405..74615443-chr4:74615480..74619617,3	K562	blood:
5	chr4:74613441..74615334-chr4:74623016..74625012,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10005565	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10009462	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10009488	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10010970	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10012962	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10015626	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10019318	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10031141	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10938092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10938094	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10938095	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10938096	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10938097	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10938100	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10938101	0.84[EUR][1000 genomes]
rs1126647	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730284	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730667	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11733222	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11938389	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13106097	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13109377	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13112910	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13116536	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13117876	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16849928	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16849958	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1951236	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1951240	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1951242	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1957070	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1957661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227306	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227307	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227521	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227543	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2367276	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28609798	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28612337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28833215	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2886920	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2886922	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4073	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4279174	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4549349	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4694178	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694636	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4694637	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62312370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446959	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446960	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446961	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6820848	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831029	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6851997	0.86[EUR][1000 genomes]
rs6853679	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7689435	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9999262	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9999446	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv275137	chr4:74613334-74617282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74606400-74616800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74607400-74616800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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