Variant report

Variant	rs10952308
Chromosome Location	chr7:151081647-151081648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10952309	0.94[AMR][1000 genomes]
rs12668261	0.83[JPT][hapmap]
rs2240628	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs6952675	0.86[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs731486	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7778047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795959	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889489	chr7:151064872-151115691	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10952308	NUB1	cis	cerebellum	SCAN
rs10952308	TMEM176A	cis	cerebellum	SCAN
rs10952308	ASB10	cis	parietal	SCAN
rs10952308	TMEM176B	cis	parietal	SCAN
rs10952308	NUB1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151066000-151083200	Weak transcription	Hela-S3	cervix
2	chr7:151074400-151095000	Weak transcription	Fetal Kidney	kidney
3	chr7:151076600-151083600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:151076800-151094800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:151077200-151094200	Weak transcription	Dnd41	blood
6	chr7:151077400-151095000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:151079400-151082800	Weak transcription	Gastric	stomach
8	chr7:151079400-151089200	Weak transcription	Right Atrium	heart
9	chr7:151080000-151081800	Weak transcription	Spleen	Spleen
10	chr7:151080200-151081800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:151080200-151095200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:151080800-151081800	Enhancers	HMEC	breast
13	chr7:151081000-151095200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:151081200-151086600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:151081400-151082200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr7:151081600-151081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:151081600-151082000	Strong transcription	Fetal Lung	lung
18	chr7:151081600-151094000	Weak transcription	hESC Derived CD184+ Endoderm 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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