Variant report

Variant	rs7756501
Chromosome Location	chr6:73886305-73886306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1970547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1970549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2350385	0.95[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2350386	0.81[CEU][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes]
rs2882404	0.83[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2882405	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3799280	0.84[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6907229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6937240	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6937253	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9343015	0.84[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9351980	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9446861	0.83[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1022151	chr6:73876795-73996828	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv538304	chr6:73876795-73996828	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7756501	EEF1A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73867600-73890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:73867600-73890400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:73869000-73904200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73876800-73889800	Weak transcription	HSMM	muscle
5	chr6:73878400-73890200	Weak transcription	Psoas Muscle	Psoas
6	chr6:73879800-73890000	Weak transcription	HMEC	breast
7	chr6:73880200-73889600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:73884200-73887600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:73884800-73889400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:73884800-73903600	Weak transcription	Primary T cells from cord blood	blood
11	chr6:73885200-73887800	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:73885600-73888000	Enhancers	Primary B cells from cord blood	blood
13	chr6:73885800-73886400	Enhancers	GM12878-XiMat	blood
14	chr6:73886000-73887000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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