Variant report

Variant	rs4720341
Chromosome Location	chr7:39849931-39849932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1016303	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10265629	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951614	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761787	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12701767	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12701768	1.00[ASN][1000 genomes]
rs12701769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13223851	1.00[ASN][1000 genomes]
rs13235149	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17431911	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28558072	1.00[ASN][1000 genomes]
rs4602794	1.00[ASN][1000 genomes]
rs4723909	1.00[ASN][1000 genomes]
rs6976983	1.00[ASN][1000 genomes]
rs6977124	1.00[ASN][1000 genomes]
rs71536652	1.00[ASN][1000 genomes]
rs917199	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv5708	chr7:39814330-39855535	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4720341	RUNX1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39847400-39850800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:39848000-39850600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:39849000-39850400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:39849400-39851800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:39849600-39851000	Enhancers	Fetal Intestine Small	intestine
6	chr7:39849800-39850000	Bivalent Enhancer	Fetal Lung	lung
7	chr7:39849800-39850000	Flanking Active TSS	HMEC	breast
8	chr7:39849800-39850200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:39849800-39850200	Flanking Active TSS	K562	blood
10	chr7:39849800-39850600	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:39849800-39851000	Enhancers	Fetal Intestine Large	intestine
12	chr7:39849800-39851000	Enhancers	Left Ventricle	heart
13	chr7:39849800-39851200	Enhancers	Esophagus	oesophagus
14	chr7:39849800-39851400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:39849800-39851800	Enhancers	Placenta	Placenta
16	chr7:39849800-39852000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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