Variant report

Variant	rs59361210
Chromosome Location	chr1:226289002-226289003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226281557..226283150-chr1:226286865..226289299,2	MCF-7	breast:
2	chr1:226286961..226289894-chr1:226295202..226296764,2	MCF-7	breast:
3	chr1:226280306..226283507-chr1:226285698..226289497,4	K562	blood:
4	chr1:226280924..226283749-chr1:226285307..226289660,6	K562	blood:
5	chr1:226286017..226288107-chr1:226288751..226292148,3	K562	blood:
6	chr1:226286017..226288107-chr1:226288751..226291625,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1912664	1.00[EUR][1000 genomes]
rs4636422	1.00[EUR][1000 genomes]
rs56828980	0.92[AFR][1000 genomes]
rs57375208	0.92[AFR][1000 genomes]
rs61156352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6426101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676395	1.00[EUR][1000 genomes]
rs73100562	1.00[EUR][1000 genomes]
rs7513663	1.00[EUR][1000 genomes]
rs7524997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226281200-226295000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:226286200-226297200	Weak transcription	Hela-S3	cervix
3	chr1:226286600-226291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:226287800-226289200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:226288400-226291800	Weak transcription	HMEC	breast
6	chr1:226288600-226292000	Weak transcription	HSMMtube	muscle
7	chr1:226288600-226292400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226288600-226296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226288800-226289200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:226288800-226292200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:226288800-226292400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:226288800-226292400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:226288800-226292600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:226289000-226289200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:226289000-226289200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr1:226289000-226289200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:226289000-226289200	Enhancers	Esophagus	oesophagus
18	chr1:226289000-226289200	Active TSS	GM12878-XiMat	blood
19	chr1:226289000-226289400	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:226289000-226291800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:226289000-226292000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:226289000-226292000	Weak transcription	Placenta	Placenta
23	chr1:226289000-226292000	Weak transcription	K562	blood
24	chr1:226289000-226292200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:226289000-226292200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:226289000-226292200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:226289000-226292200	Weak transcription	Lung	lung
28	chr1:226289000-226292400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:226289000-226292400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:226289000-226292400	Weak transcription	HSMM	muscle
31	chr1:226289000-226292400	Weak transcription	Osteobl	bone
32	chr1:226289000-226295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:226289000-226295200	Weak transcription	Stomach Mucosa	stomach
34	chr1:226289000-226295800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:226289000-226296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:226289000-226296400	Weak transcription	Right Atrium	heart
37	chr1:226289000-226296600	Weak transcription	Right Ventricle	heart
38	chr1:226289000-226296600	Weak transcription	NHLF	lung
39	chr1:226289000-226297000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:226289000-226297000	Weak transcription	HUVEC	blood vessel

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