Variant report

Variant	rs4446181
Chromosome Location	chr3:78527213-78527214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55791931	0.83[AFR][1000 genomes]
rs62255736	0.81[ASN][1000 genomes]
rs62255739	0.84[ASN][1000 genomes]
rs62255757	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62256701	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877017	chr3:77881397-78670654	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1002258	chr3:78481969-78532178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	nsv834743	chr3:78494263-78663600	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4446181	ATP1B1	trans	lymphoblastoid	seeQTL
rs4446181	IL7	trans	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78517400-78527400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:78524800-78528000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:78525000-78528000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:78525400-78527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:78525600-78527800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:78526800-78527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:78526800-78527600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:78527000-78527400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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