Variant report

Variant	rs12194422
Chromosome Location	chr6:74674332-74674333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10455098	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10455289	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10498896	0.83[EUR][1000 genomes]
rs12204487	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12204722	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12207653	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12210594	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12212159	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212272	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12212401	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12214159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215629	0.83[EUR][1000 genomes]
rs12216273	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12216385	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1898483	0.83[EUR][1000 genomes]
rs1898484	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1898485	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1898486	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34411309	0.83[EUR][1000 genomes]
rs34460429	0.81[EUR][1000 genomes]
rs34620638	0.80[EUR][1000 genomes]
rs35017077	0.83[EUR][1000 genomes]
rs35185445	0.83[EUR][1000 genomes]
rs4072646	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072780	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41475845	0.83[EUR][1000 genomes]
rs4235877	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4235878	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4235881	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4315970	0.83[EUR][1000 genomes]
rs4502884	0.83[EUR][1000 genomes]
rs55674728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56002717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66514774	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6918522	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72963253	0.83[EUR][1000 genomes]
rs72963261	0.83[EUR][1000 genomes]
rs7760087	0.83[EUR][1000 genomes]
rs7760110	0.83[EUR][1000 genomes]
rs7763698	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9293945	0.83[EUR][1000 genomes]
rs9359045	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv34305	chr6:74571797-74675280	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1030389	chr6:74606701-74811706	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3394316	chr6:74630005-74935625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019469	chr6:74644208-74702416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv603733	chr6:74666559-74944460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12194422	COL19A1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74674000-74676400	Enhancers	Colon Smooth Muscle	Colon
2	chr6:74674200-74675600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:74674200-74676200	Enhancers	Rectal Smooth Muscle	rectum

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