Variant report

Variant	rs17042333
Chromosome Location	chr2:21675325-21675326
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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10490610	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11895666	1.00[EUR][1000 genomes];1.00[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];1.00[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];0.89[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	1.00[CHB][hapmap]
rs17042275	0.92[CHB][hapmap];0.93[GIH][hapmap]
rs17042324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042346	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];0.93[ASN][1000 genomes]
rs17042355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17042358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17042361	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17042369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17042388	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17042399	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042402	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17042404	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55692465	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60005484	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60036630	1.00[ASN][1000 genomes]
rs61007556	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6714370	0.84[CHB][hapmap];0.93[GIH][hapmap]
rs73919263	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73919265	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73919285	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73919288	1.00[ASN][1000 genomes]
rs73919289	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73919290	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73919295	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73919296	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73919299	1.00[AMR][1000 genomes];0.89[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21646800-21690600	Weak transcription	Aorta	Aorta
2	chr2:21670400-21675600	Weak transcription	Spleen	Spleen
3	chr2:21670800-21675600	Weak transcription	Ovary	ovary
4	chr2:21672600-21677000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:21673400-21676400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:21674000-21677400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:21674000-21677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:21674400-21676200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:21674400-21676400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:21674600-21675600	Enhancers	Hela-S3	cervix
11	chr2:21674600-21675800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:21674600-21676200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:21674600-21676400	Enhancers	NHLF	lung
14	chr2:21674800-21675400	Enhancers	Fetal Stomach	stomach
15	chr2:21674800-21676400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:21674800-21676600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:21675000-21676200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:21675000-21676800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:21675200-21675400	Enhancers	Right Atrium	heart
20	chr2:21675200-21675600	Enhancers	Fetal Lung	lung
21	chr2:21675200-21676200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:21675200-21676400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:21675200-21676400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:21675200-21676400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:21675200-21676800	Enhancers	Duodenum Smooth Muscle	Duodenum

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