Variant report

Variant	rs16827767
Chromosome Location	chr2:134430361-134430362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10928457	0.84[EUR][1000 genomes]
rs11891381	0.82[EUR][1000 genomes]
rs12613826	0.85[ASN][1000 genomes]
rs12614645	0.84[EUR][1000 genomes]
rs12620524	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2321200	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584846	0.94[EUR][1000 genomes];0.82[ASN][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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134425200-134431800	Weak transcription	HMEC	breast
2	chr2:134425200-134432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:134426800-134430400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:134428600-134430800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:134429600-134430600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:134429600-134430600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:134429600-134430600	Weak transcription	Fetal Heart	heart
8	chr2:134429600-134430600	Weak transcription	Fetal Lung	lung
9	chr2:134429600-134431400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:134429800-134430400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:134429800-134430600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:134429800-134430800	Weak transcription	Fetal Kidney	kidney
13	chr2:134429800-134431000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:134429800-134431000	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:134430000-134431000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:134430200-134431400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr2:134430200-134433400	Flanking Active TSS	H9 Derived Neuron 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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