Variant report

Variant	rs57453542
Chromosome Location	chr1:154791769-154791770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154738587..154739187-chr1:154791748..154792391,2	MCF-7	breast:
2	chr1:154790416..154792846-chr1:154792950..154795333,2	MCF-7	breast:
3	chr1:154783206..154785391-chr1:154789326..154792302,2	K562	blood:
4	chr1:154783206..154790651-chr1:154790786..154795764,8	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10157394	1.00[AMR][1000 genomes]
rs13374415	1.00[AMR][1000 genomes]
rs58674727	1.00[AMR][1000 genomes]
rs60328853	1.00[AMR][1000 genomes]
rs61104084	1.00[AMR][1000 genomes]
rs6690287	1.00[AMR][1000 genomes]
rs73001459	1.00[AMR][1000 genomes]
rs73001465	1.00[AMR][1000 genomes]
rs73001483	1.00[AMR][1000 genomes]
rs73003213	1.00[AMR][1000 genomes]
rs73003288	1.00[AMR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154783200-154792600	Weak transcription	Lung	lung
2	chr1:154785600-154792600	Weak transcription	Right Atrium	heart
3	chr1:154786200-154794800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:154786600-154792200	Weak transcription	Left Ventricle	heart
5	chr1:154786600-154794000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:154786600-154801800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:154786800-154792600	Weak transcription	Esophagus	oesophagus
8	chr1:154786800-154795200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:154787000-154792000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:154787000-154792000	Weak transcription	Gastric	stomach
11	chr1:154787000-154794800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:154787000-154795600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:154787000-154800400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:154787000-154805400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:154787200-154794600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:154787200-154795200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:154787400-154795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:154789200-154792400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:154789400-154792200	Strong transcription	GM12878-XiMat	blood
20	chr1:154789600-154792200	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:154789600-154794800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154790400-154791800	Strong transcription	Fetal Stomach	stomach
23	chr1:154790400-154794400	Strong transcription	Fetal Brain Female	brain
24	chr1:154790800-154794400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:154791000-154793600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:154791400-154793800	Genic enhancers	Fetal Muscle Leg	muscle
27	chr1:154791400-154794200	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr1:154791400-154794400	Weak transcription	HSMMtube	muscle
29	chr1:154791600-154792200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:154791600-154792400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:154791600-154793400	Enhancers	Skeletal Muscle Female	skeletal muscle

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