Variant report

Variant	rs270714
Chromosome Location	chr1:45052402-45052403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45050697..45052579-chr1:45054486..45057426,3	K562	blood:
2	chr1:45050682..45053753-chr1:45072593..45074247,3	K562	blood:
3	chr1:45050855..45053060-chr1:45080910..45083172,2	K562	blood:
4	chr1:45051849..45053627-chr1:45094986..45097347,2	K562	blood:
5	chr1:45043963..45046005-chr1:45050905..45053164,2	K562	blood:
6	chr1:45051247..45054152-chr1:45097215..45099101,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf228-5	chr1:45051897-45052453	ucscGeneNc_uc001cmq_1

No data

Variant related genes	Relation type
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10890309	0.86[EUR][1000 genomes]
rs156651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs156652	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270703	0.87[ASN][1000 genomes]
rs270706	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs270707	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270708	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270709	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270710	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270711	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270712	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270713	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs270716	0.90[ASN][1000 genomes]
rs270719	0.96[ASN][1000 genomes]
rs270760	0.86[EUR][1000 genomes]
rs270761	0.86[EUR][1000 genomes]
rs275075	0.93[EUR][1000 genomes]
rs275079	1.00[ASN][1000 genomes]
rs6429543	0.99[ASN][1000 genomes]
rs69141	0.82[AMR][1000 genomes];0.87[EUR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45046600-45054800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:45046800-45053600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:45047800-45060000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:45048200-45053400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:45048800-45053000	Strong transcription	Primary hematopoietic stem cells	blood
7	chr1:45049000-45052600	Enhancers	Brain Substantia Nigra	brain
8	chr1:45049000-45062800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:45050000-45053400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:45050000-45057600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:45050400-45053400	Weak transcription	Hela-S3	cervix
12	chr1:45051200-45052600	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr1:45051200-45053200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:45051400-45053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:45051600-45057200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:45051800-45053200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:45051800-45053200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:45051800-45053400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:45052000-45053200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:45052000-45053400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:45052000-45057200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:45052400-45053200	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:45052400-45057600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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