Variant report

Variant	rs17042327
Chromosome Location	chr2:21674451-21674452
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	chr2:21671910..21674894-chr2:21681580..21683728,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

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[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]
rs17042324	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]
rs17042333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21646800-21690600	Weak transcription	Aorta	Aorta
2	chr2:21664800-21675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:21670400-21675600	Weak transcription	Spleen	Spleen
4	chr2:21670800-21675600	Weak transcription	Ovary	ovary
5	chr2:21671600-21675000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:21672600-21677000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:21673400-21676400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:21674000-21675000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:21674000-21677400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:21674000-21677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:21674400-21676200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:21674400-21676400	Enhancers	HUES48 Cell Line	embryonic stem cell

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