Variant report

Variant	rs12962421
Chromosome Location	chr18:44787498-44787499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44778191..44780835-chr18:44785176..44787814,2	K562	blood:
2	chr18:44778191..44780835-chr18:44785049..44787814,3	K562	blood:
3	chr18:44779645..44782742-chr18:44785627..44788634,4	MCF-7	breast:
4	chr18:44624367..44626651-chr18:44785801..44788433,2	K562	blood:
5	chr18:44623688..44626651-chr18:44786266..44788433,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10502880	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12956009	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12957869	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12958943	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1355594	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17723389	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17723754	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17785419	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17785603	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1912989	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1980055	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2048523	0.88[EUR][1000 genomes]
rs2048524	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2684837	0.82[EUR][1000 genomes]
rs28471970	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28628143	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28666933	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34155040	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34939493	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4534948	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7242976	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8084241	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8092050	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9304344	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9944807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9948677	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9950812	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9952447	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9960932	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9965170	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr18:44786400-44789200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr18:44787000-44791000	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr18:44787200-44788400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr18:44787200-44788600	Bivalent Enhancer	Fetal Brain Female	brain
5	chr18:44787200-44790600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr18:44787200-44791000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr18:44787400-44787600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:44787400-44787600	Bivalent Enhancer	Spleen	Spleen
9	chr18:44787400-44787800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr18:44787400-44787800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr18:44787400-44787800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:44787400-44788000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr18:44787400-44788200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:44787400-44789800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:44787400-44791000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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