Variant report

Variant	rs2124544
Chromosome Location	chr3:142791596-142791597
allele	C/T
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:15)

rs_ID	r²[population]
rs10935476	0.82[ASN][1000 genomes]
rs11917259	0.85[ASN][1000 genomes]
rs11925953	0.90[ASN][1000 genomes]
rs16852909	0.88[ASN][1000 genomes]
rs17557349	0.85[ASN][1000 genomes]
rs17633378	0.95[ASN][1000 genomes]
rs1869894	0.90[ASN][1000 genomes]
rs2173599	0.85[ASN][1000 genomes]
rs2353407	0.87[ASN][1000 genomes]
rs4437106	0.82[ASN][1000 genomes]
rs58124018	0.82[EUR][1000 genomes]
rs59510635	0.96[ASN][1000 genomes]
rs60356687	0.82[ASN][1000 genomes]
rs73157700	0.90[ASN][1000 genomes]
rs73867496	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1004467	chr3:142768867-142800605	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1004682	chr3:142768867-142804154	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142765400-142791600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:142775600-142794400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:142789600-142791600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:142789600-142791800	Enhancers	NHEK	skin
5	chr3:142789800-142794000	Enhancers	K562	blood
6	chr3:142790000-142791800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:142790200-142792600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr3:142790600-142791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:142790600-142792000	Weak transcription	Fetal Intestine Small	intestine
10	chr3:142790800-142792000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:142790800-142796400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:142791200-142792200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:142791200-142792800	Enhancers	HUES6 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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