Variant report

Variant	rs7111644
Chromosome Location	chr11:93300260-93300261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10501807	1.00[AMR][1000 genomes]
rs11820244	1.00[AMR][1000 genomes]
rs16918984	1.00[AMR][1000 genomes]
rs1939558	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2399678	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2399687	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2399689	0.93[AFR][1000 genomes]
rs2895471	1.00[AMR][1000 genomes]
rs4753087	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753469	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6483252	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929512	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7111644	EN2	trans	brain	seeQTL
rs7111644	C7orf16	trans	brain	seeQTL
rs7111644	CDH23	trans	brain	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93295800-93300600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:93298200-93300600	Weak transcription	Psoas Muscle	Psoas
3	chr11:93298400-93300400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:93298400-93302800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:93299400-93300600	Weak transcription	Fetal Intestine Large	intestine
6	chr11:93299400-93300800	Weak transcription	Fetal Intestine Small	intestine
7	chr11:93300200-93300800	Enhancers	HepG2	liver
8	chr11:93300200-93301200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:93300200-93301400	Enhancers	Stomach Mucosa	stomach
10	chr11:93300200-93305200	Enhancers	Liver	Liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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