Variant report

Variant	rs2214240
Chromosome Location	chr7:25665739-25665740
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10235998	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11973866	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11978307	0.87[EUR][1000 genomes]
rs12534245	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667261	0.82[ASN][1000 genomes]
rs1502948	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151997	0.82[ASN][1000 genomes]
rs17152030	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152036	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17152054	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17152061	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882526	0.85[ASN][1000 genomes]
rs2134479	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28723687	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62454635	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73085996	0.96[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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv1020230	chr7:25649344-25783071	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv2753233	chr7:25655060-25771160	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25661400-25666200	Weak transcription	Left Ventricle	heart
2	chr7:25661600-25666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:25663200-25666400	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:25663400-25668800	Enhancers	Fetal Lung	lung
5	chr7:25664200-25666800	Enhancers	Fetal Muscle Leg	muscle
6	chr7:25664200-25667600	Enhancers	Fetal Stomach	stomach
7	chr7:25664400-25666400	Enhancers	Ovary	ovary
8	chr7:25664800-25666400	Enhancers	Fetal Kidney	kidney
9	chr7:25664800-25667200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:25664800-25669400	Enhancers	Brain Germinal Matrix	brain
11	chr7:25665200-25666000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:25665200-25666000	Enhancers	Primary B cells from cord blood	blood
13	chr7:25665400-25668000	Weak transcription	Fetal Brain Male	brain
14	chr7:25665400-25672800	Weak transcription	Aorta	Aorta
15	chr7:25665600-25669200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:25665600-25670600	Weak transcription	Right Atrium	heart

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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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