Variant report

Variant	rs2553973
Chromosome Location	chr11:19238587-19238588
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1698885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1698891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs793251	1.00[AMR][1000 genomes]
rs793274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs796969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924692	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1041249	chr11:19229878-19248268	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19229400-19240200	Weak transcription	Left Ventricle	heart
2	chr11:19229400-19244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:19229600-19245000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:19231600-19239000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:19232000-19242800	Weak transcription	Right Atrium	heart
6	chr11:19235400-19239000	Weak transcription	Fetal Heart	heart
7	chr11:19238000-19239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:19238000-19240000	Enhancers	HMEC	breast
9	chr11:19238000-19240000	Weak transcription	HSMM	muscle
10	chr11:19238200-19238600	Enhancers	Hela-S3	cervix
11	chr11:19238200-19240400	Enhancers	NHEK	skin
12	chr11:19238200-19240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:19238400-19238600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:19238400-19238600	Enhancers	Stomach Mucosa	stomach
15	chr11:19238400-19238600	Bivalent Enhancer	Osteobl	bone
16	chr11:19238400-19238800	Enhancers	HUVEC	blood vessel
17	chr11:19238400-19239000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:19238400-19241600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

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

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