Variant report

Variant	rs13219077
Chromosome Location	chr6:38739167-38739168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38670515..38672545-chr6:38737534..38740411,2	K562	blood:

Variant related genes	Relation type
ENSG00000124767	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1018420	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1033524	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12191936	1.00[ASN][1000 genomes]
rs12196388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199272	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208807	0.84[GIH][hapmap]
rs12208880	0.82[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12209872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210346	1.00[ASN][1000 genomes]
rs13196250	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13208143	1.00[CHB][hapmap]
rs13213448	1.00[CHB][hapmap]
rs1625177	1.00[CHB][hapmap]
rs1631117	1.00[CHD][hapmap]
rs1781723	1.00[CHB][hapmap]
rs1937777	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2395710	1.00[CHB][hapmap]
rs506672	1.00[CHB][hapmap]
rs67438253	1.00[ASN][1000 genomes]
rs6923304	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6928323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930268	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742625	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7769812	0.92[GIH][hapmap]
rs9296260	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv462915	chr6:38728142-38773293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602959	chr6:38728142-38786528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470814	chr6:38728142-38790149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13219077	ANKS1A	cis	parietal	SCAN
rs13219077	TAF8	cis	parietal	SCAN
rs13219077	FANCE	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38738200-38739800	Enhancers	HMEC	breast
2	chr6:38738200-38740200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:38738400-38739800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:38738400-38740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:38738600-38739400	Flanking Active TSS	HUVEC	blood vessel
6	chr6:38738600-38739400	Enhancers	K562	blood
7	chr6:38738800-38739400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:38738800-38739400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:38738800-38739800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:38739000-38739200	Enhancers	NHEK	skin
11	chr6:38739000-38739600	Enhancers	GM12878-XiMat	blood
12	chr6:38739000-38739800	Enhancers	Monocytes-CD14+_RO01746	blood

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