Variant report

Variant	rs17165035
Chromosome Location	chr5:126701190-126701191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17604615	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs17604889	0.85[CHD][hapmap]
rs17673685	0.85[CHD][hapmap]
rs17763722	0.85[CHD][hapmap]
rs17839697	0.85[CHD][hapmap]
rs3812054	0.83[CHD][hapmap]
rs6595768	0.85[CHD][hapmap]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126692200-126704800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:126694400-126702600	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:126695400-126701200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:126695400-126704400	Weak transcription	HSMMtube	muscle
6	chr5:126695600-126703400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:126695600-126703400	Weak transcription	HSMM	muscle
8	chr5:126695600-126703600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:126695600-126705200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:126700600-126703400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:126700600-126704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:126701000-126701800	Enhancers	Brain Hippocampus Middle	brain

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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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