Variant report

Variant	rs2430029
Chromosome Location	chr7:122311732-122311733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr7:122311665-122311858	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225795	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12538550	0.94[ASN][1000 genomes]
rs1968146	0.94[ASN][1000 genomes]
rs1968147	0.94[ASN][1000 genomes]
rs2192020	0.80[ASN][1000 genomes]
rs2215668	0.88[EUR][1000 genomes]
rs2430028	0.94[ASN][1000 genomes]
rs2430045	0.88[EUR][1000 genomes]
rs2430047	0.88[EUR][1000 genomes]
rs2430049	0.88[EUR][1000 genomes]
rs2471181	0.97[ASN][1000 genomes]
rs2471182	1.00[ASN][1000 genomes]
rs73220284	0.94[ASN][1000 genomes]
rs73220288	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122294000-122314400	Weak transcription	Fetal Lung	lung
3	chr7:122301400-122315200	Weak transcription	Gastric	stomach
4	chr7:122305400-122312600	Weak transcription	Pancreas	Pancrea
5	chr7:122307000-122313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:122308200-122316600	Weak transcription	Left Ventricle	heart
7	chr7:122308400-122314400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:122309000-122314200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:122311200-122312000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:122311200-122312600	Enhancers	HUVEC	blood vessel
11	chr7:122311200-122313000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:122311400-122311800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:122311400-122312000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:122311400-122312000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:122311400-122313000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:122311400-122316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:122311600-122312000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:122311600-122312200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:122311600-122312400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:122311600-122312800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:122311600-122312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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