Variant report

Variant	rs7119996
Chromosome Location	chr11:93389932-93389933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10160552	0.85[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10765620	0.85[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10831089	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10831091	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10831093	0.85[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1939565	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944104	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4146891	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61229806	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483261	0.81[EUR][1000 genomes]
rs6483262	0.86[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs7105804	0.85[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes]
rs7939460	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950893	0.91[EUR][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	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	nsv975401	chr11:93364502-93390549	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7119996	C11orf54	cis	normal skin	skin_eQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93389000-93393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:93389200-93393800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:93389200-93394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:93389400-93390200	Enhancers	Dnd41	blood
5	chr11:93389400-93394000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:93389400-93394000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:93389400-93394200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:93389600-93394200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:93389600-93394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:93389600-93394200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:93389600-93394200	Weak transcription	Fetal Thymus	thymus
12	chr11:93389600-93394200	Weak transcription	Thymus	Thymus
13	chr11:93389600-93394200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:93389800-93394000	Weak transcription	Primary T cells from cord blood	blood

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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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