Variant report

Variant	rs61260531
Chromosome Location	chr1:45047805-45047806
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45036529..45039222-chr1:45046512..45048986,2	K562	blood:
2	chr1:45041622..45043509-chr1:45047717..45049476,2	K562	blood:
3	chr1:45045874..45048149-chr1:45182908..45185522,3	K562	blood:
4	chr1:45036529..45039444-chr1:45046512..45048459,3	K562	blood:
5	chr1:45045874..45048115-chr1:45182908..45185522,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf228-4	chr1:45047311-45049479	ucscGeneNc_uc001cmr_1

No data

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158231	0.94[ASN][1000 genomes]
rs11211015	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11807223	0.88[ASN][1000 genomes]
rs12119059	0.84[ASN][1000 genomes]
rs12127289	0.84[ASN][1000 genomes]
rs12569316	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16832091	0.99[ASN][1000 genomes]
rs2355360	0.84[ASN][1000 genomes]
rs2378723	0.84[ASN][1000 genomes]
rs270715	0.89[ASN][1000 genomes]
rs270756	0.94[ASN][1000 genomes]
rs270757	0.94[ASN][1000 genomes]
rs34090807	0.82[ASN][1000 genomes]
rs3738734	0.99[ASN][1000 genomes]
rs3850851	0.84[ASN][1000 genomes]
rs3911861	0.84[ASN][1000 genomes]
rs56186608	0.85[ASN][1000 genomes]
rs59485926	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61351118	0.83[ASN][1000 genomes]
rs6670379	0.94[ASN][1000 genomes]
rs928685	0.89[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45042200-45048000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:45042200-45050600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:45042400-45051000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:45043200-45051600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:45044200-45048200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:45046600-45050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:45046600-45054800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:45046800-45053600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:45047000-45048600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:45047000-45050800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:45047400-45049200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:45047400-45049600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:45047600-45048000	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:45047600-45049000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:45047800-45048600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:45047800-45049000	Weak transcription	Brain Substantia Nigra	brain
18	chr1:45047800-45060000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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