Variant report

Variant	rs2957193
Chromosome Location	chr11:56922479-56922480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11228901	1.00[AMR][1000 genomes]
rs11501564	1.00[AMR][1000 genomes]
rs12275563	1.00[AMR][1000 genomes]
rs12275655	1.00[AMR][1000 genomes]
rs12277644	1.00[AMR][1000 genomes]
rs12288446	1.00[AMR][1000 genomes]
rs12289270	1.00[AMR][1000 genomes]
rs12290460	1.00[AMR][1000 genomes]
rs12290493	1.00[AMR][1000 genomes]
rs2860248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2860249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2860311	1.00[AMR][1000 genomes]
rs2860313	1.00[AMR][1000 genomes]
rs2860510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2960567	1.00[AMR][1000 genomes]
rs3016754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3017315	0.89[AFR][1000 genomes]
rs3017570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3018193	1.00[AMR][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56916400-56923000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:56917600-56922800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:56918200-56923000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:56918600-56922600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:56918600-56922800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:56918600-56922800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:56919200-56922800	Weak transcription	K562	blood
8	chr11:56919600-56922800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:56919600-56923400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:56920000-56922600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:56920400-56923200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:56921800-56923600	Enhancers	Placenta	Placenta
13	chr11:56922200-56923200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:56922200-56923400	Enhancers	Adipose Nuclei	Adipose
15	chr11:56922400-56923400	Enhancers	Colon Smooth Muscle	Colon
16	chr11:56922400-56923600	Enhancers	NHEK	skin
17	chr11:56922400-56924400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:56922400-56924400	Enhancers	Stomach Mucosa	stomach
19	chr11:56922400-56924600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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