Variant report

Variant	rs10915933
Chromosome Location	chr1:226279050-226279051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226273328..226275664-chr1:226276167..226279764,3	K562	blood:
2	chr1:226278316..226280585-chr1:226296182..226299761,5	K562	blood:
3	chr1:226199148..226201886-chr1:226278380..226281272,2	K562	blood:
4	chr1:226270175..226272489-chr1:226276775..226279082,2	K562	blood:
5	chr1:226269914..226275147-chr1:226275590..226280617,8	MCF-7	breast:
6	chr1:226270119..226272721-chr1:226276429..226280440,3	MCF-7	breast:
7	chr1:226278286..226279796-chr1:226279889..226282591,2	K562	blood:
8	chr1:226278163..226280585-chr1:226296182..226298785,3	K562	blood:
9	chr1:226269982..226272748-chr1:226275764..226279082,4	K562	blood:
10	chr1:226278938..226281494-chr1:226297746..226299953,3	MCF-7	breast:
11	chr1:226277702..226280605-chr1:226284688..226287302,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10915934	0.86[ASN][1000 genomes]
rs10915938	0.85[ASN][1000 genomes]
rs10915939	0.85[ASN][1000 genomes]
rs10915940	0.83[ASN][1000 genomes]
rs12026319	0.87[ASN][1000 genomes]
rs12117683	0.81[ASN][1000 genomes]
rs12121071	0.82[ASN][1000 genomes]
rs12123950	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12130296	0.85[ASN][1000 genomes]
rs12131977	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12144544	0.86[ASN][1000 genomes]
rs1355391	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs34374657	0.86[AFR][1000 genomes]
rs4570386	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4592232	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4653715	0.82[ASN][1000 genomes]
rs9645314	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10915933	C1orf55	cis	parietal	SCAN
rs10915933	LEFTY1	cis	cerebellum	SCAN
rs10915933	ITPKB	cis	parietal	SCAN
rs10915933	C1orf35	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226271800-226286200	Weak transcription	Ovary	ovary
2	chr1:226271800-226288000	Weak transcription	Right Atrium	heart
3	chr1:226271800-226288400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:226272000-226281000	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:226272000-226282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:226272000-226285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:226272000-226287800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:226272000-226288200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226274800-226279600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:226277400-226284000	Weak transcription	NHEK	skin
11	chr1:226277800-226280800	Weak transcription	K562	blood
12	chr1:226278800-226279800	Enhancers	Placenta	Placenta
13	chr1:226278800-226287600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:226279000-226281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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