Variant report

Variant	rs4715048
Chromosome Location	chr6:13006410-13006411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13004185..13006578-chr6:13012805..13015375,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10807388	0.82[EUR][1000 genomes]
rs11758659	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961007	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11963982	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13207062	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34576660	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4132046	0.90[EUR][1000 genomes]
rs4236097	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4349811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4367379	0.81[EUR][1000 genomes]
rs4380742	0.81[AMR][1000 genomes]
rs4492189	0.89[EUR][1000 genomes]
rs4711899	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715016	0.80[AMR][1000 genomes]
rs4715032	0.81[AMR][1000 genomes]
rs4715043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715045	0.81[JPT][hapmap]
rs6899754	0.80[AMR][1000 genomes]
rs6900619	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6901563	0.86[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6916268	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6920970	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6924689	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs7341250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7739717	0.80[AMR][1000 genomes]
rs7743219	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7762881	0.81[AMR][1000 genomes]
rs7774775	0.80[AMR][1000 genomes]
rs9296556	0.80[AMR][1000 genomes]
rs9296580	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369759	0.91[EUR][1000 genomes]
rs9369760	0.89[EUR][1000 genomes]
rs9369768	0.81[EUR][1000 genomes]
rs9381636	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs9395335	0.90[EUR][1000 genomes]
rs9463337	0.81[AMR][1000 genomes]
rs9463363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9463364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9473113	0.80[AMR][1000 genomes]
rs9473120	0.81[AMR][1000 genomes]
rs9473156	0.95[ASN][1000 genomes]
rs9473188	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9473198	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9473285	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr6:12997400-13011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:13003400-13006800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:13004400-13010200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:13005200-13008200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:13005600-13007200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:13006200-13006600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:13006200-13006600	Enhancers	Stomach Smooth Muscle	stomach
8	chr6:13006200-13013200	Enhancers	Brain Anterior Caudate	brain
9	chr6:13006400-13006600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:13006400-13006800	Flanking Active TSS	K562	blood
11	chr6:13006400-13007400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:13006400-13007400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:13006400-13007600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:13006400-13007800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:13006400-13008400	Weak transcription	Aorta	Aorta
16	chr6:13006400-13009400	Enhancers	Fetal Heart	heart
17	chr6:13006400-13010000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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