Variant report

Variant	rs10174557
Chromosome Location	chr2:116119196-116119197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1155663	0.88[ASN][1000 genomes]
rs12474896	0.82[ASN][1000 genomes]
rs13430426	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1402448	0.87[ASN][1000 genomes]
rs1402449	0.88[ASN][1000 genomes]
rs1521072	0.91[ASN][1000 genomes]
rs1607192	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17044293	0.88[ASN][1000 genomes]
rs2001800	0.89[ASN][1000 genomes]
rs56367866	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66950432	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67092650	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558115	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562421	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569580	0.86[ASN][1000 genomes]
rs9308712	0.92[ASN][1000 genomes]
rs949888	0.88[ASN][1000 genomes]
rs975454	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874918	chr2:116098665-116183946	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
3	nsv963924	chr2:116110836-116134022	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10174557	SLC20A1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116115600-116120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:116115600-116120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:116116800-116120400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:116116800-116121000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:116116800-116121200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:116118000-116121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:116118200-116120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:116118400-116121000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:116118400-116121000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:116118600-116119400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr2:116118600-116120800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:116118800-116121600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:116118800-116121800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:116119000-116131800	Weak transcription	Pancreas	Pancrea

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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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