Variant report

Variant	rs270761
Chromosome Location	chr1:45032096-45032097
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	chr1:45031998..45033648-chr1:45056197..45059133,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10890309	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs156651	0.87[EUR][1000 genomes]
rs156652	0.87[EUR][1000 genomes]
rs270706	0.87[EUR][1000 genomes]
rs270707	0.87[EUR][1000 genomes]
rs270708	0.86[EUR][1000 genomes]
rs270709	0.87[EUR][1000 genomes]
rs270710	0.87[EUR][1000 genomes]
rs270711	0.87[EUR][1000 genomes]
rs270712	0.87[EUR][1000 genomes]
rs270713	0.86[EUR][1000 genomes]
rs270714	0.86[EUR][1000 genomes]
rs270760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs69141	0.85[AMR][1000 genomes];0.99[EUR][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:22 , 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	chr1:45028200-45033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:45028600-45032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:45029400-45038400	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:45029800-45047800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:45030400-45034600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:45030600-45034600	Enhancers	Brain Anterior Caudate	brain
12	chr1:45030800-45032200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:45031000-45032400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:45031200-45032200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr1:45031200-45032600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:45031200-45036400	Enhancers	Brain Angular Gyrus	brain
17	chr1:45031200-45040000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:45031400-45032200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:45031400-45032600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr1:45031600-45037000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:45031800-45033000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:45031800-45034600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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