Variant report

Variant	rs72981751
Chromosome Location	chr1:98389292-98389293
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98386898..98389575-chr1:98395488..98397277,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12074249	1.00[EUR][1000 genomes]
rs1889227	1.00[EUR][1000 genomes]
rs57653088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58243347	1.00[AMR][1000 genomes]
rs58638365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58639633	1.00[AMR][1000 genomes]
rs58893462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037638	1.00[AMR][1000 genomes]
rs59356371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59538909	1.00[AMR][1000 genomes]
rs59954273	1.00[AMR][1000 genomes]
rs60078043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887083	1.00[AMR][1000 genomes]
rs60911244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61174144	1.00[AMR][1000 genomes]
rs61211497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61492808	1.00[AMR][1000 genomes]
rs6662081	1.00[AMR][1000 genomes]
rs72963706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963743	1.00[AMR][1000 genomes]
rs72963747	1.00[AMR][1000 genomes]
rs72963772	1.00[AMR][1000 genomes]
rs72967637	1.00[AMR][1000 genomes]
rs72967645	1.00[AMR][1000 genomes]
rs72967661	1.00[AMR][1000 genomes]
rs72969626	1.00[AMR][1000 genomes]
rs72969641	1.00[AMR][1000 genomes]
rs72969655	1.00[AMR][1000 genomes]
rs72969666	1.00[AMR][1000 genomes]
rs72969667	1.00[AMR][1000 genomes]
rs72969669	1.00[AMR][1000 genomes]
rs72969673	1.00[AMR][1000 genomes]
rs72969678	1.00[AMR][1000 genomes]
rs72969696	1.00[AMR][1000 genomes]
rs72969699	1.00[AMR][1000 genomes]
rs72979743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981771	1.00[EUR][1000 genomes]
rs72981774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106051	1.00[AMR][1000 genomes]
rs74106378	1.00[AMR][1000 genomes]
rs7517110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv934244	chr1:98260729-98415915	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98387400-98389800	Weak transcription	Fetal Brain Female	brain
2	chr1:98387400-98389800	Enhancers	Fetal Intestine Large	intestine
3	chr1:98387400-98390000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:98387400-98390200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:98387400-98390600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:98387400-98390600	Weak transcription	HSMM	muscle
7	chr1:98387600-98390600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:98387600-98390600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:98387600-98390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:98387600-98390800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:98387600-98390800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:98387800-98390800	Weak transcription	NHEK	skin
13	chr1:98387800-98391400	Weak transcription	HepG2	liver
14	chr1:98388200-98390800	Weak transcription	Small Intestine	intestine
15	chr1:98388400-98390600	Weak transcription	Dnd41	blood
16	chr1:98388600-98390800	Weak transcription	Primary T cells from cord blood	blood
17	chr1:98389200-98389600	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:98389200-98393000	Enhancers	Fetal Intestine Small	intestine

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