Variant report

Variant	rs17042346
Chromosome Location	chr2:21676393-21676394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10490609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10490610	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11895666	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12611495	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12611610	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12613395	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12613921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614377	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12615116	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12615149	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12616024	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12619415	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12623465	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12623812	0.82[ASN][1000 genomes]
rs1544858	1.00[CHB][hapmap]
rs17042271	0.92[CHB][hapmap]
rs17042275	0.92[CHB][hapmap]
rs17042324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17042327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17042331	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17042333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17042337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17042350	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17042355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17042358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17042361	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17042368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17042369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17042388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17042399	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17042402	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17042404	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55692465	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60005484	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60036630	0.95[ASN][1000 genomes]
rs61007556	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6714370	0.84[CHB][hapmap]
rs73919263	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73919265	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73919285	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73919288	0.95[ASN][1000 genomes]
rs73919289	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73919290	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73919295	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73919296	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73919299	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21646800-21690600	Weak transcription	Aorta	Aorta
2	chr2:21672600-21677000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:21673400-21676400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:21674000-21677400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:21674000-21677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:21674400-21676400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:21674600-21676400	Enhancers	NHLF	lung
8	chr2:21674800-21676400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:21674800-21676600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:21675000-21676800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:21675200-21676400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:21675200-21676400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:21675200-21676400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:21675200-21676800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:21675600-21676600	Enhancers	Ovary	ovary
16	chr2:21675600-21677200	Enhancers	Stomach Smooth Muscle	stomach
17	chr2:21676200-21676400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:21676200-21676400	Enhancers	Right Atrium	heart
19	chr2:21676200-21677400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:21676200-21678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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