Variant report

Variant	rs595248
Chromosome Location	chr11:93604621-93604622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10765636	1.00[AFR][1000 genomes]
rs1284227	1.00[AFR][1000 genomes]
rs1356566	0.82[AFR][1000 genomes]
rs1518554	0.82[AFR][1000 genomes]
rs2135525	0.83[AFR][1000 genomes]
rs582731	1.00[AFR][1000 genomes]
rs590918	1.00[AFR][1000 genomes]
rs607194	1.00[AFR][1000 genomes]
rs610089	1.00[AFR][1000 genomes]
rs612398	0.91[AFR][1000 genomes]
rs648164	1.00[AFR][1000 genomes]
rs7127547	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93603600-93605200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:93604200-93605200	Enhancers	Fetal Intestine Large	intestine
3	chr11:93604200-93605400	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:93604200-93606000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:93604200-93606600	Enhancers	Fetal Intestine Small	intestine
6	chr11:93604600-93605200	Enhancers	Stomach Mucosa	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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