Variant report

Variant	rs72990262
Chromosome Location	chr1:113762870-113762871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11102572	1.00[EUR][1000 genomes]
rs11102587	1.00[EUR][1000 genomes]
rs12058371	1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063903	1.00[EUR][1000 genomes]
rs12066276	1.00[EUR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068820	1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12075099	1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs1216782	1.00[EUR][1000 genomes]
rs1216786	1.00[EUR][1000 genomes]
rs1216787	1.00[EUR][1000 genomes]
rs17030888	1.00[EUR][1000 genomes]
rs6657174	1.00[EUR][1000 genomes]
rs72990279	1.00[EUR][1000 genomes]
rs72990283	1.00[EUR][1000 genomes]
rs72990285	1.00[EUR][1000 genomes]
rs72990286	1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][1000 genomes]
rs7513355	1.00[EUR][1000 genomes]
rs7518119	1.00[EUR][1000 genomes]
rs7540515	1.00[EUR][1000 genomes]
rs7545283	1.00[EUR][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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:113758000-113768400	Weak transcription	Aorta	Aorta
2	chr1:113758600-113764000	Enhancers	Fetal Intestine Large	intestine
3	chr1:113759200-113763200	Enhancers	Fetal Intestine Small	intestine
4	chr1:113760200-113763400	Weak transcription	Fetal Kidney	kidney
5	chr1:113760400-113766000	Weak transcription	Gastric	stomach
6	chr1:113761000-113790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:113761400-113763000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:113761600-113763000	Enhancers	Pancreas	Pancrea
9	chr1:113761800-113763000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:113762000-113766200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:113762200-113763400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:113762200-113763800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:113762200-113766200	Weak transcription	Ovary	ovary
14	chr1:113762600-113763800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:113762800-113763800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:113762800-113766000	Weak transcription	K562	blood
17	chr1:113762800-113766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:113762800-113766200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:113762800-113774800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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