Variant report

Variant	rs10890309
Chromosome Location	chr1:45031182-45031183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45024496..45026229-chr1:45029848..45032415,2	K562	blood:
2	chr1:45026219..45030279-chr1:45030555..45033451,4	K562	blood:
3	chr1:45027973..45030279-chr1:45030555..45033321,2	K562	blood:
4	chr1:45029542..45032238-chr1:45094579..45096690,2	K562	blood:
5	chr1:45029534..45031871-chr1:45035387..45037942,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10158231	0.80[AFR][1000 genomes]
rs156651	0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs156652	0.87[EUR][1000 genomes]
rs270706	0.95[CEU][hapmap];0.90[CHB][hapmap];0.87[EUR][1000 genomes]
rs270707	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes]
rs270708	0.91[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs270709	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes]
rs270710	0.87[EUR][1000 genomes]
rs270711	0.87[EUR][1000 genomes]
rs270712	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes]
rs270713	0.86[EUR][1000 genomes]
rs270714	0.86[EUR][1000 genomes]
rs270756	0.87[YRI][hapmap]
rs270760	1.00[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs270761	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs275075	0.82[CEU][hapmap]
rs61787550	1.00[ASN][1000 genomes]
rs69141	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
3	chr1:45023000-45036200	Enhancers	Brain Substantia Nigra	brain
4	chr1:45023800-45047600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:45024400-45033200	Weak transcription	HMEC	breast
6	chr1:45027800-45031200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:45028200-45033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:45028600-45032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:45029400-45038400	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:45029800-45047800	Enhancers	Brain Hippocampus Middle	brain
11	chr1:45030400-45034600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:45030600-45031400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:45030600-45031600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr1:45030600-45031800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr1:45030600-45034600	Enhancers	Brain Anterior Caudate	brain
16	chr1:45030800-45031200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:45030800-45032000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr1:45030800-45032200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:45031000-45031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:45031000-45032000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr1:45031000-45032400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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