Variant report

Variant	rs17045087
Chromosome Location	chr1:217227246-217227247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1416528	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17045075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17045085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17045097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:217221800-217251400	Weak transcription	Left Ventricle	heart
3	chr1:217223200-217250000	Weak transcription	Psoas Muscle	Psoas
4	chr1:217226000-217227400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:217226400-217235000	Weak transcription	Fetal Kidney	kidney
6	chr1:217226600-217227800	Enhancers	Brain Anterior Caudate	brain
7	chr1:217226600-217227800	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:217226800-217227800	Enhancers	Brain Hippocampus Middle	brain
9	chr1:217226800-217228000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:217226800-217228400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:217227000-217227400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:217227000-217227400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:217227000-217227400	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr1:217227000-217228200	Enhancers	Fetal Heart	heart
15	chr1:217227200-217227800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:217227200-217228400	Enhancers	Foreskin Melanocyte Primary Cells skin01	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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