Variant report

Variant	rs73718028
Chromosome Location	chr7:122490484-122490485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2159828	1.00[AMR][1000 genomes]
rs56029436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56148137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56150634	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56380009	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56413347	1.00[AMR][1000 genomes]
rs57823101	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58138081	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58923447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60519662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718004	0.94[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718023	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718026	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719745	1.00[AMR][1000 genomes]
rs73719762	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719765	1.00[AMR][1000 genomes]
rs73719766	1.00[AMR][1000 genomes]
rs73719767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719774	0.91[AFR][1000 genomes]
rs7787644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122465400-122496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:122481000-122493800	Weak transcription	Aorta	Aorta
3	chr7:122484200-122493800	Weak transcription	Lung	lung
4	chr7:122484400-122495600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:122484400-122495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:122485200-122496200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:122487200-122494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:122487200-122497200	Weak transcription	Right Atrium	heart
9	chr7:122488600-122492600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:122488800-122495800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:122489200-122494600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:122489400-122490600	Enhancers	Ovary	ovary
13	chr7:122489800-122490600	Enhancers	Pancreas	Pancrea
14	chr7:122490000-122490600	Enhancers	HepG2	liver
15	chr7:122490000-122491200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:122490000-122492600	Weak transcription	Fetal Lung	lung
17	chr7:122490000-122493800	Weak transcription	Fetal Stomach	stomach
18	chr7:122490200-122492600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:122490200-122507600	Weak transcription	Gastric	stomach
20	chr7:122490200-122507600	Weak transcription	Left Ventricle	heart
21	chr7:122490400-122492000	Weak transcription	Fetal Heart	heart
22	chr7:122490400-122494400	Weak transcription	Right Ventricle	heart

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