Variant report

Variant	rs17164626
Chromosome Location	chr5:127170452-127170453
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17164611	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2409035	0.82[AMR][1000 genomes]
rs2409036	0.82[AMR][1000 genomes]
rs4836341	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	esv1797538	chr5:127162576-127172905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1798552	chr5:127162576-127173217	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1846743	chr5:127162576-127173217	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3421549	chr5:127170353-127175251	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr5:127169600-127170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:127169600-127171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:127169600-127171200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:127169600-127171200	Enhancers	HSMM	muscle
5	chr5:127169800-127170600	Enhancers	Colon Smooth Muscle	Colon
6	chr5:127170000-127170600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:127170000-127170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:127170000-127171200	Enhancers	Fetal Kidney	kidney
9	chr5:127170200-127170600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127170200-127171200	Enhancers	Adipose Nuclei	Adipose
11	chr5:127170200-127172000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:127170200-127174400	Weak transcription	NHDF-Ad	bronchial
13	chr5:127170400-127170600	Enhancers	Fetal Intestine Large	intestine
14	chr5:127170400-127170800	Weak transcription	HSMMtube	muscle
15	chr5:127170400-127171600	Enhancers	Ovary	ovary
16	chr5:127170400-127173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:127170400-127180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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