Variant report

Variant	rs270721
Chromosome Location	chr1:44984548-44984549
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	chr1:44975674..44978843-chr1:44984055..44988124,5	K562	blood:
2	chr1:44975674..44978374-chr1:44983451..44986964,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12562325	0.95[ASN][1000 genomes]
rs272534	0.90[ASN][1000 genomes]
rs2994537	0.99[ASN][1000 genomes]
rs67874053	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs781770	0.90[ASN][1000 genomes]
rs781772	0.89[ASN][1000 genomes]
rs781775	0.88[ASN][1000 genomes]
rs781790	0.94[ASN][1000 genomes]
rs811928	0.90[ASN][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	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	esv1005212	chr1:44972573-44985674	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44976400-44985000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:44978600-44985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:44978600-44985000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:44978800-44988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:44979000-44989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:44981000-44984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:44981000-44988600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:44983000-44988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:44983200-44984600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:44983200-44985000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:44983800-44985000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:44983800-44985200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:44983800-44985400	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:44984000-44985000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:44984000-44985400	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:44984000-44985600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:44984000-44985600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:44984000-44985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:44984000-44985600	Enhancers	Brain Anterior Caudate	brain
20	chr1:44984000-44985600	Enhancers	Brain Hippocampus Middle	brain
21	chr1:44984000-44986000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:44984000-44990200	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:44984200-44984600	Weak transcription	Brain Substantia Nigra	brain
24	chr1:44984400-44985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:44984400-44990000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links