Variant report

Variant	rs315253
Chromosome Location	chr5:42874501-42874502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42853973..42857038-chr5:42873699..42877054,3	K562	blood:
2	chr5:42871730..42873375-chr5:42874311..42877246,2	K562	blood:
3	chr5:42849114..42851312-chr5:42872827..42874820,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10036147	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10036468	0.89[ASN][1000 genomes]
rs10044301	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10053947	0.82[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10061198	0.89[ASN][1000 genomes]
rs10068961	0.91[ASN][1000 genomes]
rs10072017	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12655096	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12658770	0.86[ASN][1000 genomes]
rs12659760	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13156119	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13354920	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs160330	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs188793	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1902100	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2098715	0.97[ASN][1000 genomes]
rs2548362	0.80[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2548364	0.83[EUR][1000 genomes]
rs2548365	0.84[EUR][1000 genomes]
rs2548366	0.84[EUR][1000 genomes]
rs2603622	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2603624	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28415991	0.91[ASN][1000 genomes]
rs309932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309934	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309935	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309942	0.81[EUR][1000 genomes]
rs315246	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs315262	0.89[YRI][hapmap]
rs315263	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34917335	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34981544	0.89[ASN][1000 genomes]
rs371261	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs378235	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs378344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs388214	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs420550	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs435312	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs446294	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4482913	0.89[ASN][1000 genomes]
rs4513706	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs453436	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6451649	0.89[ASN][1000 genomes]
rs6451650	0.89[ASN][1000 genomes]
rs6451651	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6451652	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6451653	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs6451654	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs6864892	0.94[ASN][1000 genomes]
rs6867854	0.88[ASN][1000 genomes]
rs6875237	0.89[ASN][1000 genomes]
rs6881608	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6885355	0.89[ASN][1000 genomes]
rs6886626	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6895458	0.89[ASN][1000 genomes]
rs6895751	0.89[ASN][1000 genomes]
rs71627562	0.95[ASN][1000 genomes]
rs71627563	0.95[ASN][1000 genomes]
rs7701142	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7721545	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9885101	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
4	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
6	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
10	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
11	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42872200-42874600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:42872200-42875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:42872200-42875800	Weak transcription	Placenta	Placenta
4	chr5:42872200-42876000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:42872400-42875800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:42872600-42882200	Enhancers	Fetal Intestine Large	intestine
7	chr5:42872600-42882400	Enhancers	Fetal Intestine Small	intestine
8	chr5:42873000-42874800	Enhancers	Liver	Liver
9	chr5:42873000-42876000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr5:42873400-42875800	Weak transcription	Colonic Mucosa	Colon
11	chr5:42873400-42875800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:42873400-42876000	Weak transcription	Brain Angular Gyrus	brain
13	chr5:42873400-42876600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:42873600-42875600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:42873800-42875800	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:42873800-42876000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:42874000-42875000	Flanking Active TSS	HepG2	liver
18	chr5:42874200-42875600	Weak transcription	K562	blood

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