Variant report

Variant	rs1202657
Chromosome Location	chr7:70659343-70659344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11977738	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1202644	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1202646	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1202647	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1202649	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1202650	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1202653	0.88[EUR][1000 genomes]
rs1202654	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1202656	0.80[CHB][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1202658	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1202660	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1202661	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1202663	0.89[ASN][1000 genomes]
rs1209074	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1212551	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1621935	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1636495	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1796078	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1796079	0.84[ASN][1000 genomes]
rs1796082	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57743710	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6975042	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs719062	0.87[CEU][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73700640	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1202657	TRIM50	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70651600-70663600	Weak transcription	Fetal Heart	heart
2	chr7:70651600-70666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:70652400-70664400	Weak transcription	Ovary	ovary
4	chr7:70653000-70663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70654400-70660200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:70654800-70663600	Weak transcription	Fetal Lung	lung
7	chr7:70655400-70663400	Weak transcription	Aorta	Aorta
8	chr7:70655800-70665600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:70656200-70661000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:70658000-70665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:70658200-70660000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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