Variant report

Variant	rs6666312
Chromosome Location	chr1:74058566-74058567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10159060	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10890054	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11210300	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12025606	0.91[ASN][1000 genomes]
rs12029032	0.91[ASN][1000 genomes]
rs12033289	0.83[ASN][1000 genomes]
rs1360243	0.86[ASN][1000 genomes]
rs1411282	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1556193	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1854644	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6667503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694107	0.91[ASN][1000 genomes]
rs7517062	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7540134	0.81[AMR][1000 genomes]
rs7542794	0.81[AMR][1000 genomes];0.91[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	nsv1005356	chr1:73542786-74124065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830226	chr1:73950139-74125303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74055800-74058800	Weak transcription	Aorta	Aorta
2	chr1:74057400-74058800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:74058200-74059000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:74058400-74058800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:74058400-74058800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:74058400-74058800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:74058400-74058800	Enhancers	HUVEC	blood vessel
8	chr1:74058400-74058800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:74058400-74059000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:74058400-74059200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:74058400-74059200	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr1:74058400-74059600	Active TSS	Primary B cells from cord blood	blood
13	chr1:74058400-74059800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:74058400-74060200	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:74058400-74060400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:74058400-74060400	Enhancers	Stomach Mucosa	stomach
17	chr1:74058400-74061400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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