Variant report

Variant	rs59604650
Chromosome Location	chr14:21229497-21229498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10139349	1.00[EUR][1000 genomes]
rs2067688	1.00[AMR][1000 genomes]
rs2067690	1.00[AMR][1000 genomes]
rs58740940	1.00[AMR][1000 genomes]
rs59771481	1.00[AMR][1000 genomes]
rs60270087	1.00[AMR][1000 genomes]
rs60908382	1.00[EUR][1000 genomes]
rs61494779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73578028	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv901470	chr14:21203159-21244696	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21221400-21241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:21223200-21236200	Weak transcription	Left Ventricle	heart
3	chr14:21226800-21236000	Weak transcription	Right Atrium	heart
4	chr14:21227000-21232200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:21227200-21232600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:21227200-21232600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:21228600-21229800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:21228800-21229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:21228800-21229800	Enhancers	GM12878-XiMat	blood
10	chr14:21229000-21229600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr14:21229000-21229600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:21229000-21229800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr14:21229000-21229800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:21229000-21229800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:21229000-21229800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:21229000-21229800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:21229200-21229600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:21229400-21229600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr14:21229400-21229800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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