Variant report

Variant	rs17164611
Chromosome Location	chr5:127181232-127181233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17164626	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[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	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	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:127179800-127181400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:127180000-127181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:127180200-127181400	Enhancers	Stomach Mucosa	stomach
4	chr5:127180600-127184600	Weak transcription	Psoas Muscle	Psoas
5	chr5:127180600-127185600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:127180800-127181400	Enhancers	Brain Substantia Nigra	brain
7	chr5:127180800-127185200	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:127181000-127182600	Weak transcription	Small Intestine	intestine
9	chr5:127181000-127182800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:127181000-127183600	Weak transcription	Colonic Mucosa	Colon
11	chr5:127181000-127183600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:127181000-127183600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:127181000-127185000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:127181000-127190200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:127181000-127193400	Weak transcription	Left Ventricle	heart
16	chr5:127181200-127185000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:127181200-127185000	Weak transcription	Gastric	stomach

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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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