Variant report

Variant	rs4563689
Chromosome Location	chr6:78063190-78063191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13193803	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196365	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196766	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200984	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13204564	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208046	1.00[EUR][1000 genomes]
rs13208313	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209939	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212343	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214068	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217189	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13218318	1.00[ASN][1000 genomes]
rs1361762	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1361845	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418589	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474778	0.92[EUR][1000 genomes]
rs1738517	0.92[EUR][1000 genomes]
rs1777794	0.83[EUR][1000 genomes]
rs1777802	0.94[EUR][1000 genomes]
rs1935723	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935736	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226183	1.00[JPT][hapmap]
rs34016419	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35049111	0.83[EUR][1000 genomes]
rs6920316	0.84[EUR][1000 genomes]
rs6925279	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71537194	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71537195	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772083	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774869	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775062	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443397	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448053	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024795	chr6:78028751-78076926	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1018131	chr6:78031037-78076926	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1015358	chr6:78033996-78066871	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78044200-78078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:78048400-78071600	Weak transcription	NHEK	skin
3	chr6:78050200-78071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:78050400-78070000	Weak transcription	Left Ventricle	heart
5	chr6:78053400-78071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:78054400-78071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:78062600-78063200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:78062800-78063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:78062800-78063200	ZNF genes & repeats	Aorta	Aorta
10	chr6:78063000-78063200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:78063000-78063200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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