Variant report

Variant	rs74145793
Chromosome Location	chr1:223439923-223439924
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11488547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17161989	0.81[AMR][1000 genomes]
rs17161990	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17161995	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17163766	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17163767	0.81[AMR][1000 genomes]
rs17163769	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17163777	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74145787	0.84[ASN][1000 genomes]
rs74145790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74145791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74145792	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74145794	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851199	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	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	chr1:223427400-223442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:223432200-223440200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:223432400-223442200	Weak transcription	Pancreas	Pancrea
4	chr1:223433200-223444600	Weak transcription	Esophagus	oesophagus
5	chr1:223433600-223440400	Weak transcription	Fetal Intestine Large	intestine
6	chr1:223438000-223443600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:223438400-223440400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:223438400-223441000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:223438600-223442800	Weak transcription	Gastric	stomach
10	chr1:223438800-223440800	Strong transcription	Ovary	ovary
11	chr1:223438800-223442200	Weak transcription	K562	blood
12	chr1:223439000-223440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:223439000-223440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:223439000-223440200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:223439200-223440200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:223439200-223440400	Enhancers	Brain Anterior Caudate	brain
17	chr1:223439200-223442200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:223439600-223440400	Enhancers	Stomach Mucosa	stomach
19	chr1:223439600-223440600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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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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