Variant report

Variant	rs530864013
Chromosome Location	chr1:114585646-114585647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114583000-114590400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:114583800-114590200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:114584800-114586000	Enhancers	Fetal Muscle Leg	muscle
4	chr1:114584800-114586800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:114584800-114590600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:114585200-114585800	Enhancers	Spleen	Spleen
7	chr1:114585200-114586400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:114585200-114586600	Enhancers	Fetal Intestine Small	intestine
9	chr1:114585200-114586600	Enhancers	Ovary	ovary
10	chr1:114585400-114587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:114585600-114586600	Enhancers	Fetal Intestine Large	intestine
12	chr1:114585600-114586600	Enhancers	Fetal Lung	lung

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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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