Variant report

Variant	rs12079740
Chromosome Location	chr1:44955510-44955511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12076189	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077680	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077687	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
5	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr1:44952000-44966200	Weak transcription	Right Atrium	heart
2	chr1:44952400-44960000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:44952600-44961000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:44952600-44961200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:44952800-44961600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:44953400-44956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:44954200-44955800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:44954800-44955600	Enhancers	HSMM	muscle
9	chr1:44954800-44955600	Enhancers	Osteobl	bone
10	chr1:44954800-44956000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:44955000-44955600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:44955000-44955600	Strong transcription	Primary hematopoietic stem cells	blood
13	chr1:44955200-44955600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:44955200-44955600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:44955200-44955600	Enhancers	HSMMtube	muscle
16	chr1:44955200-44955800	Enhancers	NH-A	brain
17	chr1:44955400-44956200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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