Variant report

Variant	rs11808294
Chromosome Location	chr1:57509245-57509246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11206974	1.00[EUR][1000 genomes]
rs11799770	1.00[EUR][1000 genomes]
rs11807035	1.00[EUR][1000 genomes]
rs11808305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072428	1.00[EUR][1000 genomes]
rs13374012	1.00[EUR][1000 genomes]
rs35124225	1.00[EUR][1000 genomes]
rs6677976	1.00[EUR][1000 genomes]
rs6684103	1.00[EUR][1000 genomes]
rs6684287	1.00[EUR][1000 genomes]
rs6688025	1.00[EUR][1000 genomes]
rs6697460	1.00[EUR][1000 genomes]
rs706352	1.00[EUR][1000 genomes]
rs7529992	1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57496400-57514200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:57508000-57511400	Weak transcription	Fetal Brain Female	brain
6	chr1:57508600-57513200	Weak transcription	Fetal Brain Male	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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