Variant report

Variant	rs272574
Chromosome Location	chr1:45021383-45021384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45018991..45021425-chr1:45022454..45025232,2	K562	blood:
2	chr1:45020474..45024637-chr1:45033502..45037799,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs156654	0.80[ASN][1000 genomes]
rs270764	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs270765	0.82[ASN][1000 genomes]
rs270766	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
8	esv3452245	chr1:45019365-45023963	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3504043	chr1:45021034-45022416	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3504044	chr1:45021034-45022416	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3452246	chr1:45021125-45022388	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3452247	chr1:45021178-45022332	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45022000	Weak transcription	HepG2	liver
2	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:45012000-45023200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:45012400-45023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:45012800-45021600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:45012800-45023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:45017800-45021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:45017800-45023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
10	chr1:45018600-45021400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:45019200-45021400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:45019600-45023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:45019800-45023200	Weak transcription	NH-A	brain
14	chr1:45020000-45023000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:45020200-45023200	Weak transcription	A549	lung
16	chr1:45020400-45023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:45020400-45023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:45020400-45023200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:45020400-45023400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:45020600-45023200	Weak transcription	HSMMtube	muscle
21	chr1:45020600-45023400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:45020600-45023400	Weak transcription	HSMM	muscle
23	chr1:45020800-45023000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:45020800-45023400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:45020800-45023400	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:45021000-45021600	Enhancers	NHEK	skin
27	chr1:45021000-45021800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:45021000-45023200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:45021000-45023200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:45021000-45023600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:45021000-45024000	Weak transcription	Brain Anterior Caudate	brain
32	chr1:45021200-45021600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:45021200-45022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:45021200-45023000	Weak transcription	HMEC	breast

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