Variant report

Variant	rs12504071
Chromosome Location	chr4:19947463-19947464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10938784	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498777	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12501642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505951	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507097	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12509507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509871	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12512771	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643020	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12648215	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16868857	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16868882	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16868933	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16868937	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16868942	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16868984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575988	0.92[EUR][1000 genomes]
rs4597829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618309	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56207856	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56978174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58812947	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60621850	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60791911	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61790422	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73801279	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73801302	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73803904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73803906	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73803907	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73803908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73803915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv529290	chr4:19658583-20173839	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv593790	chr4:19740879-20142039	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752044	chr4:19788263-20126804	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1003707	chr4:19898883-19963213	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
5	nsv1005430	chr4:19932874-20013705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19944800-19948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:19945800-19947600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:19946000-19947800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:19946000-19947800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:19946000-19948400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:19946000-19948800	Enhancers	HMEC	breast
7	chr4:19946200-19947800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:19946400-19947800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:19946400-19947800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:19946400-19948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:19946400-19949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:19946600-19947600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:19946600-19947800	Enhancers	Spleen	Spleen
14	chr4:19946600-19949000	Enhancers	HUVEC	blood vessel
15	chr4:19946600-19949800	Enhancers	NHLF	lung
16	chr4:19946800-19947600	Weak transcription	Fetal Lung	lung
17	chr4:19946800-19949600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:19946800-19949600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:19947200-19947600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:19947200-19947600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:19947200-19947600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr4:19947200-19947800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:19947200-19947800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:19947200-19947800	Flanking Active TSS	Osteobl	bone
25	chr4:19947200-19948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:19947200-19948400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:19947200-19948400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:19947400-19947800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:19947400-19947800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:19947400-19947800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:19947400-19947800	Flanking Active TSS	NH-A	brain
32	chr4:19947400-19947800	Flanking Active TSS	NHEK	skin
33	chr4:19947400-19948000	Enhancers	Fetal Stomach	stomach
34	chr4:19947400-19948200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:19947400-19949000	Enhancers	Dnd41	blood

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