Variant report

Variant	rs74146216
Chromosome Location	chr1:224826284-224826285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56331910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56803202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56879180	1.00[AMR][1000 genomes]
rs57257659	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59093574	1.00[AMR][1000 genomes]
rs60017318	1.00[AMR][1000 genomes]
rs60031851	1.00[AMR][1000 genomes]
rs60681998	0.84[AFR][1000 genomes]
rs61674651	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146204	0.82[AFR][1000 genomes]
rs74146215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146221	0.87[AFR][1000 genomes]
rs74146224	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146397	0.80[AFR][1000 genomes]
rs74149624	0.88[AFR][1000 genomes]
rs74149626	0.84[AFR][1000 genomes]
rs873832	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
4	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:224823400-224827000	Enhancers	HSMM	muscle
6	chr1:224823400-224827200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:224824400-224826400	Enhancers	Dnd41	blood
8	chr1:224824400-224827800	Enhancers	NH-A	brain
9	chr1:224824600-224826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:224824600-224826400	Enhancers	Fetal Brain Male	brain
11	chr1:224824800-224826600	Enhancers	HSMMtube	muscle
12	chr1:224825000-224826400	Enhancers	Thymus	Thymus
13	chr1:224825200-224826400	Enhancers	Primary T cells from cord blood	blood
14	chr1:224825200-224826400	Enhancers	Fetal Thymus	thymus
15	chr1:224825200-224828600	Enhancers	Pancreas	Pancrea
16	chr1:224825200-224829400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:224825400-224826400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:224825400-224826400	Enhancers	Gastric	stomach
19	chr1:224825600-224826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:224825600-224827800	Weak transcription	Fetal Brain Female	brain
21	chr1:224825800-224826400	Enhancers	NHLF	lung
22	chr1:224825800-224827800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:224825800-224828800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:224826000-224826800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:224826000-224828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:224826000-224829800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:224826200-224826400	Weak transcription	NHDF-Ad	bronchial
29	chr1:224826200-224829200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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