Variant report

Variant	rs17269205
Chromosome Location	chr5:8058257-8058258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10065191	0.87[AMR][1000 genomes]
rs10065301	0.87[AMR][1000 genomes]
rs13360334	0.87[AMR][1000 genomes]
rs16879810	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6872123	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6883879	1.00[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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1020991	chr5:8014412-8129558	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	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	chr5:8056400-8060800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:8056600-8059200	Enhancers	Ovary	ovary
3	chr5:8057600-8059000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:8057600-8059000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:8057600-8059400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:8057800-8058400	Bivalent Enhancer	K562	blood
7	chr5:8057800-8059200	Enhancers	Fetal Muscle Trunk	muscle
8	chr5:8058000-8058400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:8058000-8058400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:8058000-8058400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:8058000-8058400	Enhancers	Brain Angular Gyrus	brain
12	chr5:8058000-8059200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:8058200-8058400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:8058200-8059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:8058200-8060800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:8058200-8061800	Weak transcription	Spleen	Spleen

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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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