Variant report

Variant	rs7144011
Chromosome Location	chr14:79940383-79940384
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10136360	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10145154	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146690	0.91[CEU][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10146997	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150332	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10150482	0.90[ASW][hapmap];0.95[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11625620	0.82[MEX][hapmap];1.00[YRI][hapmap]
rs11625769	1.00[YRI][hapmap]
rs17109221	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17109256	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17836088	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2370982	0.91[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4899745	0.95[YRI][hapmap]
rs7154797	0.82[MEX][hapmap];0.95[YRI][hapmap]
rs7156625	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690737	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8008910	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020365	0.86[AMR][1000 genomes];0.96[EUR][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	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7144011	TMED10	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79927600-79944800	Weak transcription	Aorta	Aorta
2	chr14:79927800-79944000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:79931800-79942400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:79933600-79941800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:79933800-79942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:79938600-79940400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:79939000-79940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:79939400-79940400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:79940200-79950000	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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