Variant report

Variant	rs594747
Chromosome Location	chr6:150748147-150748148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1768287	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617079	0.85[ASN][1000 genomes]
rs629943	0.85[ASN][1000 genomes]
rs661949	0.85[ASN][1000 genomes]
rs7752549	0.92[AFR][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	nsv1022455	chr6:150727247-150755933	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1020067	chr6:150730783-150870708	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:150740600-150757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:150746400-150748200	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:150746600-150748800	Enhancers	Fetal Heart	heart
4	chr6:150746800-150748400	Enhancers	Colon Smooth Muscle	Colon
5	chr6:150747000-150757400	Weak transcription	Gastric	stomach
6	chr6:150747400-150749000	Enhancers	Spleen	Spleen
7	chr6:150747400-150750800	Enhancers	Fetal Kidney	kidney
8	chr6:150747600-150749000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:150747800-150750200	Weak transcription	Fetal Lung	lung
10	chr6:150747800-150757600	Weak transcription	Right Atrium	heart
11	chr6:150748000-150750000	Weak transcription	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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