Variant report

Variant	rs6438501
Chromosome Location	chr3:118897934-118897935
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:10)

rs_ID	r²[population]
rs4318547	0.90[ASN][1000 genomes]
rs4322992	0.90[ASN][1000 genomes]
rs4687978	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6797198	0.90[ASN][1000 genomes]
rs7614071	1.00[ASN][1000 genomes]
rs7616950	1.00[ASN][1000 genomes]
rs9289124	1.00[ASN][1000 genomes]
rs9813310	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819501	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9868984	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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829692	chr3:118727772-118901711	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr3:118884000-118914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:118890200-118900600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:118894800-118899800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:118895400-118900600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:118895600-118899600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:118895600-118900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:118895600-118900600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:118895600-118900600	Weak transcription	NH-A	brain
9	chr3:118895800-118900400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:118895800-118900600	Weak transcription	Placenta	Placenta
11	chr3:118896000-118900600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:118896000-118900800	Weak transcription	Osteobl	bone
13	chr3:118896200-118900000	Weak transcription	HMEC	breast
14	chr3:118896200-118900600	Weak transcription	Fetal Intestine Large	intestine
15	chr3:118896200-118901000	Weak transcription	Fetal Intestine Small	intestine
16	chr3:118896400-118899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:118896600-118899600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:118896800-118900600	Weak transcription	NHEK	skin
19	chr3:118897800-118899000	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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