Variant report

Variant	rs270699
Chromosome Location	chr1:45018492-45018493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45009148..45011626-chr1:45017945..45020473,2	K562	blood:

Variant related genes	Relation type
ENSG00000263381	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12566533	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs156256	0.95[ASN][1000 genomes]
rs166589	0.92[ASN][1000 genomes]
rs175222	0.94[ASN][1000 genomes]
rs187945	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs270700	0.92[ASN][1000 genomes]
rs272565	0.85[ASN][1000 genomes]
rs2924869	0.95[ASN][1000 genomes]
rs2992508	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][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	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
3	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
4	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
5	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
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45022000	Weak transcription	HepG2	liver
2	chr1:45009600-45021200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:45012000-45023200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:45012400-45019600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:45012400-45023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:45012800-45018800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:45012800-45021600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:45012800-45023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:45014200-45019200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:45015600-45020800	Enhancers	Brain Substantia Nigra	brain
12	chr1:45015800-45018600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:45016400-45019600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:45016600-45018600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:45017400-45019600	Enhancers	Stomach Mucosa	stomach
16	chr1:45017600-45020800	Enhancers	Brain Hippocampus Middle	brain
17	chr1:45017800-45019200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:45017800-45019800	Enhancers	Placenta	Placenta
19	chr1:45017800-45021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:45017800-45023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
22	chr1:45018200-45018600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:45018400-45019200	Enhancers	NHEK	skin
24	chr1:45018400-45019400	Enhancers	HMEC	breast

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