Variant report

Variant	rs11977738
Chromosome Location	chr7:70666299-70666300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11981951	0.84[AMR][1000 genomes]
rs1202644	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1202646	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1202647	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1202649	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1202650	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1202654	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1202656	0.80[CHB][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1202657	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]
rs1202658	0.83[EUR][1000 genomes]
rs1202660	0.90[ASN][1000 genomes]
rs1202661	0.82[EUR][1000 genomes]
rs1202663	0.88[ASN][1000 genomes]
rs1209074	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1212551	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1621935	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1636495	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796078	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796079	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796082	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57743710	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6954525	0.88[ASN][1000 genomes]
rs6975042	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs719062	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73700640	0.81[EUR][1000 genomes];0.87[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
rs11977738	TRIM50	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70651600-70666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70664000-70674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:70664200-70675600	Weak transcription	Right Atrium	heart
4	chr7:70664400-70667600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:70665200-70666600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:70665200-70667200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:70665400-70666600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:70665400-70672200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:70665600-70666400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:70665600-70666800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:70665600-70674600	Weak transcription	Ovary	ovary
12	chr7:70666200-70667000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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