Variant report

Variant	rs811928
Chromosome Location	chr1:44975005-44975006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44965854..44968248-chr1:44973969..44975941,2	K562	blood:
2	chr1:44965779..44967986-chr1:44972874..44975622,2	K562	blood:
3	chr1:44974069..44975867-chr1:45042813..45044583,2	K562	blood:
4	chr1:44974401..44976254-chr1:44977179..44979196,2	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	0.85[ASN][1000 genomes]
rs270721	0.90[ASN][1000 genomes]
rs272534	0.80[ASN][1000 genomes]
rs2994537	0.89[ASN][1000 genomes]
rs67874053	0.90[ASN][1000 genomes]
rs781770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs781775	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781790	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44966200-44975400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:44967600-44975200	Weak transcription	Right Atrium	heart
3	chr1:44971200-44975200	Enhancers	Brain Hippocampus Middle	brain
4	chr1:44971600-44975600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:44973200-44977400	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:44973800-44983000	Enhancers	Brain Substantia Nigra	brain
7	chr1:44974000-44975200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:44974400-44975600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:44974400-44976000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:44974400-44976800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:44974400-44978000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:44974600-44976000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:44974600-44978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:44974800-44975800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:44974800-44975800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:44974800-44975800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:44974800-44976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:44974800-44976000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:44974800-44978400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:44975000-44975400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:44975000-44975800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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