Variant report

Variant	rs11952534
Chromosome Location	chr5:74949530-74949531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74915137..74918881-chr5:74947780..74950531,3	K562	blood:
2	chr5:74944742..74946556-chr5:74948688..74950561,2	MCF-7	breast:
3	chr5:74915137..74917681-chr5:74948612..74950531,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1004201	0.84[ASN][1000 genomes]
rs10942740	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11948350	1.00[EUR][1000 genomes]
rs11948442	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11953173	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11953883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955568	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11955819	0.89[EUR][1000 genomes]
rs11956111	1.00[EUR][1000 genomes]
rs11956112	1.00[EUR][1000 genomes]
rs11956755	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11960741	1.00[EUR][1000 genomes]
rs11960747	1.00[EUR][1000 genomes]
rs11960771	1.00[EUR][1000 genomes]
rs1422441	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1422442	1.00[ASN][1000 genomes]
rs1489	0.94[EUR][1000 genomes]
rs16872590	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs16872661	0.94[EUR][1000 genomes]
rs16872677	1.00[EUR][1000 genomes]
rs16872683	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872693	1.00[EUR][1000 genomes]
rs16872696	1.00[ASN][1000 genomes]
rs16872701	1.00[ASN][1000 genomes]
rs16872710	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs1991450	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112349	0.95[EUR][1000 genomes]
rs2112350	1.00[EUR][1000 genomes]
rs28376795	0.82[ASN][1000 genomes]
rs28562938	0.82[ASN][1000 genomes]
rs3822587	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4640773	0.83[EUR][1000 genomes]
rs55817530	1.00[ASN][1000 genomes]
rs55831232	1.00[ASN][1000 genomes]
rs55849961	1.00[ASN][1000 genomes]
rs55885461	1.00[ASN][1000 genomes]
rs56348108	1.00[ASN][1000 genomes]
rs56813297	0.82[ASN][1000 genomes]
rs56832737	1.00[EUR][1000 genomes]
rs57414757	0.89[EUR][1000 genomes]
rs5744617	0.94[EUR][1000 genomes]
rs5744720	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs57531042	1.00[EUR][1000 genomes]
rs57670471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58216239	0.89[EUR][1000 genomes]
rs59427628	0.89[EUR][1000 genomes]
rs60385047	1.00[EUR][1000 genomes]
rs60609097	1.00[EUR][1000 genomes]
rs61516153	0.94[EUR][1000 genomes]
rs6865606	0.89[EUR][1000 genomes]
rs6868205	1.00[GIH][hapmap]
rs6870090	1.00[EUR][1000 genomes]
rs6882452	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6894068	1.00[EUR][1000 genomes]
rs6895148	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120804	0.89[EUR][1000 genomes]
rs73120805	0.89[EUR][1000 genomes]
rs73120807	0.89[EUR][1000 genomes]
rs73120811	0.89[EUR][1000 genomes]
rs73120822	0.89[EUR][1000 genomes]
rs73120824	0.89[EUR][1000 genomes]
rs73120848	0.94[EUR][1000 genomes]
rs73120849	0.94[EUR][1000 genomes]
rs73120850	0.94[EUR][1000 genomes]
rs73122744	0.94[EUR][1000 genomes]
rs73122755	0.94[EUR][1000 genomes]
rs73122770	1.00[EUR][1000 genomes]
rs73122771	1.00[EUR][1000 genomes]
rs73122772	1.00[EUR][1000 genomes]
rs73124734	1.00[EUR][1000 genomes]
rs73124747	1.00[EUR][1000 genomes]
rs73124750	1.00[EUR][1000 genomes]
rs7724771	1.00[EUR][1000 genomes]
rs888785	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74944800-74952200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:74945800-74950800	Weak transcription	Right Atrium	heart
5	chr5:74946600-74952200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:74946600-74952400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:74947200-74952200	Enhancers	Fetal Heart	heart
8	chr5:74947600-74949800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:74947600-74952000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:74948000-74950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:74948000-74950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:74948000-74950600	Weak transcription	NHEK	skin
13	chr5:74948000-74951800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:74948000-74959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:74948200-74952000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:74948400-74952400	Weak transcription	Fetal Brain Male	brain
17	chr5:74948600-74950600	Enhancers	Fetal Kidney	kidney
18	chr5:74948800-74949600	Enhancers	Brain Hippocampus Middle	brain
19	chr5:74948800-74950000	Enhancers	Brain Substantia Nigra	brain
20	chr5:74949000-74949800	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:74949200-74950000	Weak transcription	Left Ventricle	heart
22	chr5:74949200-74952000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:74949400-74951600	Weak transcription	Brain Inferior Temporal Lobe	brain

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