Variant report

Variant	rs72647033
Chromosome Location	chr4:74313053-74313054
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:9)

rs_ID	r²[population]
rs11941577	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41265655	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55973650	1.00[AFR][1000 genomes]
rs56247162	0.81[AMR][1000 genomes]
rs56309753	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67784283	0.81[AMR][1000 genomes]
rs68003823	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72663024	1.00[AFR][1000 genomes]
rs72663025	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430875	chr4:74243646-74420354	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3370513	chr4:74312697-74314060	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3489113	chr4:74312735-74314195	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3489114	chr4:74312743-74314047	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3353164	chr4:74312791-74314140	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 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	chr4:74303400-74317200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:74303600-74315800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:74308400-74313400	Weak transcription	NH-A	brain
4	chr4:74309600-74315400	Genic enhancers	HepG2	liver
5	chr4:74310000-74315200	Enhancers	Liver	Liver
6	chr4:74311000-74316000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:74311200-74313400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:74311400-74316400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:74311600-74314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:74312200-74313200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74312200-74313200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:74312200-74313200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:74312200-74314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:74312400-74314000	Enhancers	NHEK	skin
15	chr4:74312800-74314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:74313000-74314000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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