Variant report

Variant	rs34482638
Chromosome Location	chr1:223503052-223503053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223502794..223505270-chr1:223535922..223537884,2	MCF-7	breast:
2	chr1:223314972..223318417-chr1:223500837..223503788,3	MCF-7	breast:
3	chr1:223497612..223499362-chr1:223501611..223504069,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236846	Chromatin interaction
ENSG00000187554	Chromatin interaction
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10907375	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11261269	0.88[AMR][1000 genomes]
rs11488548	0.89[EUR][1000 genomes]
rs11579995	1.00[AMR][1000 genomes]
rs12064476	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12074609	0.82[AMR][1000 genomes]
rs12078619	0.88[AMR][1000 genomes]
rs12087387	0.88[AMR][1000 genomes]
rs12094897	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12405882	0.88[AMR][1000 genomes]
rs1400964	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17162005	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17163836	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1914612	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2298063	1.00[AMR][1000 genomes]
rs2353204	0.88[AMR][1000 genomes]
rs28788929	0.87[ASN][1000 genomes]
rs28897212	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34572097	0.89[EUR][1000 genomes]
rs35059272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35345617	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35727959	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35736338	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35996176	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59584296	0.88[AMR][1000 genomes]
rs61838203	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838204	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838232	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61838233	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61838244	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61838245	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661314	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6677044	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6679661	0.84[AMR][1000 genomes]
rs6682552	1.00[AMR][1000 genomes]
rs6689850	1.00[AMR][1000 genomes]
rs6700523	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6701453	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs862216	0.89[EUR][1000 genomes];1.00[ASN][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223497200-223504200	Weak transcription	Right Atrium	heart
2	chr1:223497200-223512600	Weak transcription	Pancreas	Pancrea
3	chr1:223497400-223510400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:223497600-223504400	Weak transcription	Fetal Heart	heart
5	chr1:223498200-223504600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:223498400-223504200	Weak transcription	Thymus	Thymus
7	chr1:223501400-223506400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:223502200-223504000	Weak transcription	HMEC	breast
9	chr1:223502200-223505000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:223502400-223504400	Weak transcription	NHEK	skin
11	chr1:223502400-223504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:223502800-223504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:223503000-223503600	Enhancers	Fetal Kidney	kidney
14	chr1:223503000-223504000	Weak transcription	Aorta	Aorta
15	chr1:223503000-223505600	Enhancers	Ovary	ovary
16	chr1:223503000-223506000	Weak transcription	Esophagus	oesophagus

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