Variant report

Variant	rs57224143
Chromosome Location	chr3:112139793-112139794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10511317	1.00[AFR][1000 genomes]
rs1072896	1.00[AFR][1000 genomes]
rs13059364	1.00[AFR][1000 genomes]
rs13063173	1.00[AFR][1000 genomes]
rs13078401	1.00[AFR][1000 genomes]
rs13081265	1.00[AFR][1000 genomes]
rs13086960	1.00[AFR][1000 genomes]
rs13096943	1.00[AFR][1000 genomes]
rs16845068	1.00[AFR][1000 genomes]
rs16859758	1.00[AFR][1000 genomes]
rs16859849	1.00[AFR][1000 genomes]
rs1872985	0.97[ASN][1000 genomes]
rs34080815	1.00[AFR][1000 genomes]
rs34541731	1.00[AFR][1000 genomes]
rs34829517	1.00[AFR][1000 genomes]
rs34889961	1.00[AFR][1000 genomes]
rs34949685	1.00[AFR][1000 genomes]
rs34962178	1.00[AFR][1000 genomes]
rs35263368	1.00[AFR][1000 genomes]
rs35526995	1.00[AFR][1000 genomes]
rs35931975	1.00[AFR][1000 genomes]
rs36045008	1.00[AFR][1000 genomes]
rs36153507	1.00[AFR][1000 genomes]
rs3736269	1.00[AFR][1000 genomes]
rs3773701	1.00[AFR][1000 genomes]
rs3773704	1.00[AFR][1000 genomes]
rs4473524	0.94[ASN][1000 genomes]
rs56843573	0.91[AMR][1000 genomes]
rs56952692	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58657519	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59191788	1.00[AFR][1000 genomes]
rs59650289	1.00[AFR][1000 genomes]
rs59660163	0.91[AMR][1000 genomes]
rs60112764	1.00[AFR][1000 genomes]
rs60340975	1.00[AFR][1000 genomes]
rs60478586	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60646325	1.00[AFR][1000 genomes]
rs60733172	1.00[AFR][1000 genomes]
rs61370217	1.00[ASN][1000 genomes]
rs6438073	0.97[ASN][1000 genomes]
rs66546764	1.00[AFR][1000 genomes]
rs66791711	1.00[AFR][1000 genomes]
rs67021100	1.00[AFR][1000 genomes]
rs71317506	1.00[AFR][1000 genomes]
rs71317507	1.00[AFR][1000 genomes]
rs71317508	1.00[AFR][1000 genomes]
rs73229350	1.00[AFR][1000 genomes]
rs73229353	1.00[AFR][1000 genomes]
rs963541	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9847446	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3331778	chr3:112134311-112164058	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112132800-112144200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:112136200-112143000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:112137000-112142200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr3:112137000-112150400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:112137200-112139800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:112137200-112140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:112137200-112140000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:112137200-112142200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr3:112137200-112142200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr3:112137200-112142200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:112137200-112142400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr3:112137200-112147200	Weak transcription	Placenta	Placenta
13	chr3:112137600-112141800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:112137600-112142200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:112138200-112142200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr3:112138200-112142400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:112138200-112145000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:112138400-112142200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:112138600-112139800	Active TSS	HUES6 Cell Line	embryonic stem cell

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