Variant report

Variant	rs73240765
Chromosome Location	chr5:118367185-118367186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11950037	1.00[AMR][1000 genomes]
rs11953628	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6595171	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240737	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240763	0.85[AMR][1000 genomes]
rs73240772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240782	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73240765	ENSG00000172869	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118355200-118367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:118366000-118368000	Enhancers	Primary T cells from cord blood	blood
3	chr5:118366000-118369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:118366000-118369200	Flanking Active TSS	GM12878-XiMat	blood
5	chr5:118366200-118368000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:118366200-118369400	Enhancers	Fetal Thymus	thymus
7	chr5:118366400-118368000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:118366400-118368000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:118366600-118367600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr5:118366600-118367600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:118366600-118367600	Flanking Active TSS	Dnd41	blood
12	chr5:118366600-118367800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:118366600-118367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:118366600-118368000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:118366600-118368000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:118366600-118368000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:118366600-118368200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:118366600-118368400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:118366600-118368600	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:118366600-118369200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:118366600-118369200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:118366600-118369200	Enhancers	Thymus	Thymus
23	chr5:118366600-118369400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:118366800-118367400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:118366800-118367600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:118366800-118367800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:118366800-118367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:118366800-118368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:118366800-118368000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:118366800-118369200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:118367000-118367200	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:118367000-118367400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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