Variant report

Variant	rs477328
Chromosome Location	chr11:104950007-104950008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1212544	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1785886	1.00[AMR][1000 genomes]
rs472938	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475266	0.88[YRI][hapmap]
rs497874	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs499695	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs503323	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532391	1.00[AMR][1000 genomes]
rs532462	1.00[AMR][1000 genomes]
rs533436	0.88[YRI][hapmap]
rs538152	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs557371	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs571589	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs578537	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579663	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv470	chr11:104916361-104961230	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a
11	nsv1042388	chr11:104934347-104988325	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
12	esv2756562	chr11:104937371-104981568	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
13	esv3450730	chr11:104938956-104968986	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	nsv1040275	chr11:104939029-104988325	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
15	nsv818863	chr11:104940204-104960997	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
16	nsv8871	chr11:104941750-104973508	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
17	esv33277	chr11:104944762-104969485	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
18	nsv1054109	chr11:104948117-104976058	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
19	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104945400-104950800	Weak transcription	HUVEC	blood vessel
2	chr11:104948000-104953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:104949000-104950200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:104949200-104951000	Weak transcription	Adipose Nuclei	Adipose
5	chr11:104949400-104950800	Weak transcription	NHEK	skin
6	chr11:104950000-104950200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:104950000-104950400	Enhancers	Monocytes-CD14+_RO01746	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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