Variant report

Variant	rs60519662
Chromosome Location	chr7:122390368-122390369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs2159828	1.00[AMR][1000 genomes]
rs56029436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56148137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56150634	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56380009	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56413347	1.00[AMR][1000 genomes]
rs57556241	1.00[AMR][1000 genomes]
rs57823101	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58138081	1.00[AMR][1000 genomes]
rs58923447	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466840	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717679	1.00[AMR][1000 genomes]
rs73718003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718004	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718011	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718015	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718020	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718023	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718024	1.00[AMR][1000 genomes]
rs73718026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718027	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718028	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718030	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718032	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718044	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718047	1.00[AMR][1000 genomes]
rs73719708	1.00[AMR][1000 genomes]
rs73719715	1.00[AMR][1000 genomes]
rs73719718	1.00[AMR][1000 genomes]
rs73719745	1.00[AMR][1000 genomes]
rs73719762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719769	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719770	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719772	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719774	0.85[AFR][1000 genomes]
rs7787644	0.85[AFR][1000 genomes];1.00[AMR][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	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122378000-122393400	Weak transcription	Fetal Lung	lung
2	chr7:122378200-122391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:122384400-122391600	Weak transcription	Pancreas	Pancrea
4	chr7:122385200-122391200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:122386800-122394600	Weak transcription	Ovary	ovary
6	chr7:122387400-122391600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:122387400-122391600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:122387400-122391800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:122388600-122391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:122389200-122390800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:122389600-122390600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:122389800-122390800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:122390000-122390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:122390000-122392000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:122390200-122390800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:122390200-122392800	Enhancers	HUES48 Cell Line	embryonic stem cell

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