Variant report

Variant	rs12511071
Chromosome Location	chr4:87208709-87208710
allele	A/C
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:7)

rs_ID	r²[population]
rs12500132	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12502371	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12507513	1.00[CEU][hapmap]
rs12508545	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12508579	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12508939	1.00[CEU][hapmap]
rs12512524	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003585	chr4:86957967-87250436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv934210	chr4:87197339-87325578	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87201000-87215200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:87203000-87215000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:87204800-87212200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:87206200-87213600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:87207000-87209200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:87207200-87212400	Weak transcription	Fetal Kidney	kidney
7	chr4:87207800-87209000	Enhancers	Brain Hippocampus Middle	brain
8	chr4:87208000-87215800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:87208200-87215800	Weak transcription	Fetal Stomach	stomach
10	chr4:87208400-87215200	Weak transcription	Brain Germinal Matrix	brain
11	chr4:87208600-87211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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