Variant report

Variant	rs2540885
Chromosome Location	chr14:77701761-77701762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs2540887	0.89[ASN][1000 genomes]
rs35069088	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35602650	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370110	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370853	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs374227	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376645	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs380489	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs381580	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs382033	0.93[AMR][1000 genomes]
rs382670	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs382868	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384204	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs386266	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs386913	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs391944	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs392548	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs396750	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs398269	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs403602	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs404418	0.85[AMR][1000 genomes]
rs406472	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs408089	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs411965	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs412737	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs413481	0.91[ASN][1000 genomes]
rs414513	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs420661	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423656	0.85[ASN][1000 genomes]
rs428599	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs428601	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs428868	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs428908	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429008	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440094	0.91[ASN][1000 genomes]
rs451303	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010477	0.91[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3341426	chr14:77700999-77703797	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3323364	chr14:77701499-77703347	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3357142	chr14:77701637-77702122	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2237407	chr14:77701658-77702076	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3310718	chr14:77701702-77702074	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:77689400-77702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:77691600-77703000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:77693000-77705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:77694400-77704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:77697600-77704800	Weak transcription	Brain Anterior Caudate	brain
9	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
10	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
11	chr14:77698600-77705000	Weak transcription	Brain Germinal Matrix	brain
12	chr14:77700000-77704600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:77700000-77706000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:77700400-77705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:77700600-77705400	Weak transcription	Fetal Brain Female	brain
16	chr14:77701400-77708400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:77701600-77710000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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