Variant report

Variant	rs2294739
Chromosome Location	chr6:38336289-38336290
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38328048..38329877-chr6:38334191..38336815,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1983605	0.86[EUR][1000 genomes]
rs4140443	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711540	0.95[EUR][1000 genomes]
rs4711541	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711543	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711544	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711546	0.86[EUR][1000 genomes]
rs4714149	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4714151	0.97[EUR][1000 genomes]
rs4714152	0.87[EUR][1000 genomes]
rs4714153	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4714155	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714156	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4714157	0.85[EUR][1000 genomes]
rs4714158	0.87[EUR][1000 genomes]
rs58424668	0.95[EUR][1000 genomes]
rs58807047	0.95[EUR][1000 genomes]
rs6903060	0.85[EUR][1000 genomes]
rs6903611	0.87[EUR][1000 genomes]
rs6903767	0.87[EUR][1000 genomes]
rs6923701	0.86[EUR][1000 genomes]
rs742515	0.86[EUR][1000 genomes]
rs7743023	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7748599	0.87[EUR][1000 genomes]
rs7749685	0.86[EUR][1000 genomes]
rs7756267	0.89[EUR][1000 genomes]
rs7759078	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7759629	0.85[EUR][1000 genomes]
rs7764502	0.88[EUR][1000 genomes]
rs7766214	0.87[EUR][1000 genomes]
rs9296248	0.89[EUR][1000 genomes]
rs9296249	0.87[EUR][1000 genomes]
rs9349076	0.86[EUR][1000 genomes]
rs9349077	0.85[EUR][1000 genomes]
rs9349078	0.86[EUR][1000 genomes]
rs9349079	0.86[EUR][1000 genomes]
rs9357269	0.89[EUR][1000 genomes]
rs9357270	0.89[EUR][1000 genomes]
rs9357271	0.88[EUR][1000 genomes]
rs9357272	0.85[EUR][1000 genomes]
rs9366957	0.95[EUR][1000 genomes]
rs9366959	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366960	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369055	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369057	0.85[EUR][1000 genomes]
rs9380740	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380741	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380742	0.88[EUR][1000 genomes]
rs9380743	0.87[EUR][1000 genomes]
rs9380747	0.87[EUR][1000 genomes]
rs9394493	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9394494	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9470865	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9470867	0.89[EUR][1000 genomes]
rs9470868	0.88[EUR][1000 genomes]
rs9470874	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38315800-38339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:38326200-38338600	Weak transcription	Ovary	ovary
3	chr6:38326400-38337200	Weak transcription	Psoas Muscle	Psoas
4	chr6:38327400-38338600	Weak transcription	Left Ventricle	heart
5	chr6:38330000-38338000	Weak transcription	Fetal Kidney	kidney
6	chr6:38331200-38339000	Weak transcription	Right Atrium	heart
7	chr6:38332200-38337800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:38332800-38338800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:38333200-38338800	Weak transcription	NHDF-Ad	bronchial
10	chr6:38333400-38337800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:38333600-38342400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:38335400-38337400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:38335400-38338600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:38335400-38338800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:38335400-38339200	Weak transcription	HSMMtube	muscle
16	chr6:38335600-38338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:38335800-38338200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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