Variant report

Variant	rs12138848
Chromosome Location	chr1:210808177-210808178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12131415	0.83[AMR][1000 genomes];0.90[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
3	chr1:210802000-210815000	Weak transcription	Pancreas	Pancrea
4	chr1:210805600-210808600	Enhancers	Brain Anterior Caudate	brain
5	chr1:210805800-210808400	Enhancers	Brain Substantia Nigra	brain
6	chr1:210806000-210808400	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:210806200-210808200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:210806200-210808600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:210806600-210808200	Enhancers	Fetal Heart	heart
10	chr1:210806600-210808400	Enhancers	Brain Angular Gyrus	brain
11	chr1:210806800-210808400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:210807200-210816000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:210807800-210808600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:210807800-210808600	Enhancers	HSMMtube	muscle
15	chr1:210807800-210820400	Weak transcription	HSMM	muscle
16	chr1:210808000-210808600	Weak transcription	Right Atrium	heart

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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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