Variant report

Variant	rs2560788
Chromosome Location	chr6:13508970-13508971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10948735	0.91[AFR][1000 genomes]
rs2560772	0.85[AFR][1000 genomes]
rs2560785	0.98[AFR][1000 genomes]
rs2560795	0.98[AFR][1000 genomes]
rs2560807	0.93[AFR][1000 genomes]
rs2560808	0.98[AFR][1000 genomes]
rs2560809	0.89[AFR][1000 genomes]
rs2560813	0.84[LWK][hapmap]
rs2841529	0.86[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2841534	1.00[AFR][1000 genomes]
rs2841546	0.84[AFR][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13500200-13512600	Weak transcription	Small Intestine	intestine
2	chr6:13506000-13509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:13506200-13509800	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:13506200-13512400	Weak transcription	Right Atrium	heart
5	chr6:13507000-13511200	Weak transcription	Spleen	Spleen
6	chr6:13507200-13512400	Weak transcription	Left Ventricle	heart
7	chr6:13508200-13509000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:13508600-13509600	Enhancers	Adipose Nuclei	Adipose
9	chr6:13508600-13509800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:13508600-13510000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:13508600-13510000	Enhancers	NHDF-Ad	bronchial
12	chr6:13508800-13509600	Enhancers	HSMMtube	muscle
13	chr6:13508800-13510400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:13508800-13510600	Enhancers	Stomach Smooth Muscle	stomach

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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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