Variant report

Variant	rs3866645
Chromosome Location	chr1:44882382-44882383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11210996	0.96[ASN][1000 genomes]
rs11210998	0.83[EUR][1000 genomes]
rs12091565	0.84[EUR][1000 genomes]
rs12754891	0.84[EUR][1000 genomes]
rs6663541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67875295	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv829715	chr1:44772309-44947790	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44876600-44882800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:44877600-44882600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:44877600-44882600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:44880600-44882400	Genic enhancers	Primary hematopoietic stem cells	blood
5	chr1:44881200-44882600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:44881400-44882400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
7	chr1:44881400-44882600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:44881400-44882600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:44881400-44882800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:44881600-44882400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr1:44881600-44882400	Strong transcription	HepG2	liver
12	chr1:44881800-44882400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:44881800-44882600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr1:44881800-44882800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:44882000-44883000	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr1:44882200-44882400	Active TSS	Brain Angular Gyrus	brain
17	chr1:44882200-44882400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr1:44882200-44882400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr1:44882200-44882600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
20	chr1:44882200-44882800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr1:44882200-44882800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:44882200-44882800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:44882200-44883000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr1:44882200-44883200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:44882200-44883200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
26	chr1:44882200-44884200	Enhancers	Spleen	Spleen

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