Variant report

Variant	rs17124129
Chromosome Location	chr12:50311208-50311209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12312614	0.81[ASN][1000 genomes]
rs12422556	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12422575	1.00[AMR][1000 genomes]
rs12424268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12424404	1.00[AMR][1000 genomes]
rs12426750	0.83[ASN][1000 genomes]
rs12427024	1.00[AMR][1000 genomes]
rs17124131	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2298640	0.94[AMR][1000 genomes]
rs2298641	0.88[AMR][1000 genomes]
rs58494052	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61416142	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72644872	1.00[AMR][1000 genomes]
rs72644873	0.88[AMR][1000 genomes]
rs72644874	0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72644875	0.83[AMR][1000 genomes]
rs72644876	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv558836	chr12:50290023-50316439	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50303400-50311800	Weak transcription	Gastric	stomach
2	chr12:50304200-50319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:50304600-50314600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50308600-50313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:50308600-50314000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:50308600-50314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:50308600-50314600	Weak transcription	Right Atrium	heart
8	chr12:50310200-50311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50310600-50312600	Enhancers	Esophagus	oesophagus
10	chr12:50310800-50311400	Enhancers	Fetal Brain Female	brain
11	chr12:50311000-50311400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:50311000-50311400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr12:50311000-50311600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:50311000-50311600	Enhancers	Fetal Brain Male	brain
15	chr12:50311200-50311600	Enhancers	Brain Germinal Matrix	brain
16	chr12:50311200-50314000	Weak transcription	Hela-S3	cervix

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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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