Variant report

Variant	rs245312
Chromosome Location	chr5:127166013-127166014
allele	C/T
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:3)

rs_ID	r²[population]
rs245184	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245185	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127158000-127169800	Weak transcription	A549	lung
2	chr5:127161200-127169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127161200-127170400	Weak transcription	Ovary	ovary
4	chr5:127161800-127169600	Weak transcription	NHDF-Ad	bronchial
5	chr5:127163600-127170000	Weak transcription	Fetal Kidney	kidney
6	chr5:127165800-127166200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:127165800-127166200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:127165800-127166400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127165800-127166400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:127165800-127166400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:127165800-127166400	Enhancers	Psoas Muscle	Psoas
12	chr5:127165800-127167200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:127165800-127167200	Enhancers	HSMMtube	muscle
14	chr5:127166000-127166400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:127166000-127166400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:127166000-127166400	Enhancers	Colon Smooth Muscle	Colon
17	chr5:127166000-127166400	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:127166000-127167200	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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