Variant report

Variant	rs221747
Chromosome Location	chr6:165866320-165866321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs220815	0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs220818	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs220826	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs221736	0.91[ASN][1000 genomes]
rs221737	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs221738	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs221744	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs221746	0.88[ASW][hapmap];0.85[MEX][hapmap]
rs221748	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221750	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs221751	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs454165	0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417270	chr6:165682773-166023032	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv886928	chr6:165722345-166197889	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830863	chr6:165803464-165970091	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs221747	UNC93A	cis	parietal	SCAN
rs221747	MLLT4	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165836000-165873200	Weak transcription	Fetal Brain Male	brain
2	chr6:165854800-165881800	Weak transcription	Hela-S3	cervix
3	chr6:165857400-165869000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:165857400-165873600	Weak transcription	Brain Germinal Matrix	brain
5	chr6:165857400-165886200	Weak transcription	Left Ventricle	heart
6	chr6:165857400-165919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:165857800-165869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:165859000-165867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:165859000-165873400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:165863200-165882000	Weak transcription	HSMM	muscle
11	chr6:165864400-165869200	Weak transcription	HSMMtube	muscle
12	chr6:165865200-165871800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:165865400-165868200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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