Variant report

Variant	rs7578164
Chromosome Location	chr2:11078397-11078398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11886386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328192	0.94[ASN][1000 genomes]
rs1453083	0.87[EUR][1000 genomes]
rs2084927	0.94[ASN][1000 genomes]
rs4669646	0.82[EUR][1000 genomes]
rs60253877	0.92[ASN][1000 genomes]
rs72643459	0.86[EUR][1000 genomes]
rs7603978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv469438	chr2:11055298-11085744	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv580970	chr2:11055298-11085744	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11070600-11078400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:11075800-11082800	Weak transcription	Fetal Brain Male	brain
3	chr2:11076600-11087600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:11076800-11078800	Enhancers	HepG2	liver
5	chr2:11077000-11079400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:11077000-11080600	Weak transcription	HSMMtube	muscle
7	chr2:11077800-11078400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:11078000-11079800	ZNF genes & repeats	A549	lung

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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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