Variant report

Variant	rs28449483
Chromosome Location	chr7:122333215-122333216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122333145..122337582-chr7:122337646..122340528,4	K562	blood:

Variant related genes	Relation type
ENSG00000188050	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046586	1.00[AMR][1000 genomes]
rs10256337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268190	1.00[AMR][1000 genomes]
rs10268368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706427	0.89[EUR][1000 genomes]
rs12706434	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13221540	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13222266	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13223497	1.00[AMR][1000 genomes]
rs13224171	1.00[AMR][1000 genomes]
rs13226270	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13226382	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13230792	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13237142	1.00[AMR][1000 genomes]
rs13239569	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13247906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2159825	1.00[AMR][1000 genomes]
rs28403443	1.00[AMR][1000 genomes]
rs28459977	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28550991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34089631	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34125908	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34148286	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34927994	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35186619	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35286197	0.84[AMR][1000 genomes]
rs35628062	0.89[EUR][1000 genomes]
rs35986281	0.87[EUR][1000 genomes]
rs36199141	0.91[AMR][1000 genomes]
rs4283984	1.00[AMR][1000 genomes]
rs6466830	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71574711	0.89[EUR][1000 genomes]
rs71574712	0.89[EUR][1000 genomes]
rs71574713	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71574714	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71574716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71574717	0.91[AMR][1000 genomes]
rs7779064	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789775	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv817238	chr7:122325864-122371594	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122324000-122336000	Weak transcription	Right Atrium	heart
2	chr7:122324200-122336000	Weak transcription	Fetal Lung	lung
3	chr7:122327600-122336000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:122329600-122343400	Weak transcription	Ovary	ovary
5	chr7:122330000-122343000	Weak transcription	Spleen	Spleen
6	chr7:122330000-122347000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:122330200-122333800	Enhancers	Pancreas	Pancrea
8	chr7:122330200-122336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:122332200-122333400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:122332800-122342200	Weak transcription	Left Ventricle	heart
11	chr7:122333000-122333400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:122333000-122333600	Enhancers	HepG2	liver
13	chr7:122333000-122336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:122333000-122350400	Weak transcription	Gastric	stomach
15	chr7:122333200-122335800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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