Variant report

Variant	rs6948826
Chromosome Location	chr7:21746666-21746667
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11535172	1.00[AMR][1000 genomes]
rs17145080	0.82[ASW][hapmap];1.00[AMR][1000 genomes]
rs2072218	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2074758	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4404825	1.00[AMR][1000 genomes]
rs6950508	1.00[YRI][hapmap]
rs6951003	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6955998	1.00[AMR][1000 genomes]
rs6961486	0.87[YRI][hapmap]
rs6966598	1.00[AMR][1000 genomes]
rs6975974	1.00[AMR][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	nsv5655	chr7:21728469-21773203	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1016063	chr7:21740433-21808410	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6948826	SHE	trans	lymphoblastoid	seeQTL
rs6948826	ENTHD1	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21745600-21748600	Enhancers	Fetal Brain Male	brain
2	chr7:21746400-21747000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:21746600-21746800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:21746600-21747600	Weak transcription	Fetal Brain Female	brain

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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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