Variant report

Variant	rs10916348
Chromosome Location	chr1:228785805-228785806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
RNA5S17	TF binding region
RNA5SP18	TF binding region
ENSG00000206878	TF binding region
DUSP5P1	TF binding region
ENSG00000212237	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10916349	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12040713	0.94[ASN][1000 genomes]
rs12046644	0.89[CHB][hapmap]
rs12047219	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060147	0.88[EUR][1000 genomes]
rs1925715	0.94[CHB][hapmap]
rs4344301	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs6658934	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6661618	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672815	0.90[ASW][hapmap];0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6681216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7355046	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7355153	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7546569	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	esv1828070	chr1:228758016-228793246	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10916348	CABC1	cis	parietal	SCAN
rs10916348	TP53BP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228784200-228803000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:228784800-228786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:228784800-228786000	Weak transcription	Ovary	ovary
4	chr1:228784800-228786000	Weak transcription	Right Ventricle	heart
5	chr1:228784800-228787600	Weak transcription	Right Atrium	heart
6	chr1:228785000-228786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:228785000-228788000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:228785200-228786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:228785200-228786200	Enhancers	Hela-S3	cervix
10	chr1:228785200-228786200	Weak transcription	NHEK	skin
11	chr1:228785400-228791200	Weak transcription	HepG2	liver
12	chr1:228785600-228786400	Weak transcription	A549	lung
13	chr1:228785800-228786000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:228785800-228786000	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr1:228785800-228786000	Bivalent Enhancer	Fetal Thymus	thymus
16	chr1:228785800-228786200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:228785800-228787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:228785800-228787600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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