Variant report

Variant	rs6928201
Chromosome Location	chr6:70861855-70861856
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	chr6:70861054..70863597-chr6:70870424..70874641,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1064250	0.81[EUR][1000 genomes]
rs1200575	0.80[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12204439	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1517042	0.80[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1736	0.80[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2176355	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2296005	0.80[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2296010	0.84[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs34147000	0.81[EUR][1000 genomes]
rs3793059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806040	0.83[JPT][hapmap];0.91[LWK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs3806064	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs4544872	0.83[EUR][1000 genomes]
rs6903592	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908735	0.80[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs6909913	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs6920170	0.80[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6933155	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9360412	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9360413	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9360414	0.80[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9360416	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9364075	0.88[EUR][1000 genomes]
rs9364077	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6928201	COL19A1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70842400-70875200	Weak transcription	GM12878-XiMat	blood
2	chr6:70847600-70874800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70856200-70899400	Weak transcription	Left Ventricle	heart
4	chr6:70859000-70863800	Strong transcription	Primary B cells from cord blood	blood
5	chr6:70859800-70862400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:70860800-70862800	Weak transcription	HSMMtube	muscle
7	chr6:70861200-70862200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:70861200-70862200	Enhancers	HSMM	muscle
9	chr6:70861600-70862000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:70861800-70869800	Weak transcription	Psoas Muscle	Psoas

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