Variant report

Variant	rs1353837
Chromosome Location	chr1:224816039-224816040
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12131256	0.81[ASN][1000 genomes]
rs12564263	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566386	0.81[EUR][1000 genomes]
rs1566388	0.81[EUR][1000 genomes]
rs16850250	0.91[ASN][1000 genomes]
rs2405317	0.80[EUR][1000 genomes]
rs4654057	0.81[EUR][1000 genomes]
rs4654058	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4654060	0.82[EUR][1000 genomes]
rs6658957	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665204	0.82[EUR][1000 genomes]
rs6690184	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6697510	0.82[EUR][1000 genomes]
rs6699331	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7529774	0.81[EUR][1000 genomes]
rs7532595	0.81[EUR][1000 genomes]
rs883115	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs904505	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
3	esv3321244	chr1:224815519-224818391	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3321241	chr1:224815568-224818390	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3321242	chr1:224815608-224818339	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv826820	chr1:224815650-224818305	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3321243	chr1:224815657-224818312	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3321245	chr1:224815671-224818312	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv826831	chr1:224815703-224818305	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224811000-224819800	Weak transcription	Right Atrium	heart
3	chr1:224812600-224819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224812800-224825200	Weak transcription	HMEC	breast
5	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:224813000-224820200	Weak transcription	Dnd41	blood
7	chr1:224813400-224816400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224813600-224816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:224814400-224817400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:224814400-224819400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:224814600-224816400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:224814600-224816600	Enhancers	Pancreas	Pancrea
13	chr1:224814600-224819000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:224814600-224819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:224814600-224819800	Weak transcription	HSMM	muscle
16	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:224814800-224817200	Weak transcription	NH-A	brain
18	chr1:224814800-224819000	Weak transcription	Osteobl	bone
19	chr1:224814800-224819200	Weak transcription	NHLF	lung
20	chr1:224815000-224817200	Weak transcription	NHDF-Ad	bronchial
21	chr1:224815200-224816400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:224815600-224816400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:224815600-224817800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:224815600-224823200	Enhancers	Fetal Brain Male	brain
25	chr1:224816000-224816400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:224816000-224820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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