Variant report

Variant	rs57283810
Chromosome Location	chr14:65964502-65964503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65963092..65965486-chr14:65966125..65968335,2	MCF-7	breast:
2	chr14:65952323..65954709-chr14:65963629..65966415,2	MCF-7	breast:
3	chr14:65959431..65962264-chr14:65964141..65966912,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12433688	0.84[AFR][1000 genomes]
rs17102688	0.84[AFR][1000 genomes]
rs17102839	0.84[AFR][1000 genomes]
rs55698845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55723633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55954698	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55967642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56821971	0.84[AFR][1000 genomes]
rs58087042	0.84[AFR][1000 genomes]
rs58160832	0.84[AFR][1000 genomes]
rs58873346	1.00[EUR][1000 genomes]
rs59328088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60393585	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60470427	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61417186	0.84[AFR][1000 genomes]
rs74056763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056775	0.84[AFR][1000 genomes]
rs74056779	1.00[EUR][1000 genomes]
rs74056782	0.84[AFR][1000 genomes]
rs74056784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056787	0.84[AFR][1000 genomes]
rs74056794	0.84[AFR][1000 genomes]
rs74056795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056798	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058503	1.00[AMR][1000 genomes]
rs74058507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058518	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058525	0.84[AFR][1000 genomes]
rs74058528	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058529	1.00[AMR][1000 genomes]
rs74058539	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058541	0.84[AFR][1000 genomes]
rs74058545	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058550	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058553	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058562	0.84[AFR][1000 genomes]
rs74058563	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	0.89[AFR][1000 genomes];1.00[EUR][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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
2	chr14:65939000-65969400	Weak transcription	Dnd41	blood
3	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:65949600-65970200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:65950000-65965000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:65950000-65966000	Weak transcription	Psoas Muscle	Psoas
7	chr14:65950000-65969400	Weak transcription	NH-A	brain
8	chr14:65950000-65973400	Weak transcription	Gastric	stomach
9	chr14:65953800-65970600	Weak transcription	Stomach Mucosa	stomach
10	chr14:65957600-65967800	Weak transcription	Small Intestine	intestine
11	chr14:65959800-65965200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65960600-65967800	Weak transcription	Brain Substantia Nigra	brain
13	chr14:65962000-65965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:65962200-65969400	Weak transcription	Osteobl	bone
15	chr14:65962200-65969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:65963600-65973800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:65963600-65975000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:65963600-65975800	Weak transcription	Primary T cells from cord blood	blood
19	chr14:65963600-65994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:65963800-65966000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:65963800-65967800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:65963800-65968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:65964200-65964800	Weak transcription	GM12878-XiMat	blood
24	chr14:65964400-65965000	Enhancers	Pancreatic Islets	Pancreatic Islet

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