Variant report

Variant	rs60430501
Chromosome Location	chr14:37967520-37967521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37966935..37969327-chr14:37979920..37982078,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10483490	0.82[ASN][1000 genomes]
rs10483491	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11156953	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17106703	0.81[ASN][1000 genomes]
rs17106785	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950531	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955945	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955946	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2144583	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146376	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs719136	0.82[ASN][1000 genomes]
rs72671778	0.82[ASN][1000 genomes]
rs72671793	0.85[ASN][1000 genomes]
rs72674205	0.86[ASN][1000 genomes]
rs72674209	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674219	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674220	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003987	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8007012	0.81[EUR][1000 genomes];0.85[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	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv901639	chr14:37743583-38038468	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv564349	chr14:37890433-38034434	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv901641	chr14:37939401-38040755	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37944400-37970800	Weak transcription	Aorta	Aorta
2	chr14:37959400-37970800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:37959600-37970800	Weak transcription	Pancreas	Pancrea
4	chr14:37959800-37970800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:37960200-37971000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:37960200-37975400	Weak transcription	HUVEC	blood vessel
7	chr14:37963400-37970800	Weak transcription	Ovary	ovary
8	chr14:37963800-37969200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:37967200-37970200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:37967400-37969400	Weak transcription	HepG2	liver

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