Variant report

Variant	rs2373846
Chromosome Location	chr7:150361575-150361576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10155859	0.87[ASN][1000 genomes]
rs1016193	0.86[EUR][1000 genomes]
rs10225462	0.87[ASN][1000 genomes]
rs10227548	0.87[ASN][1000 genomes]
rs10228706	0.87[ASN][1000 genomes]
rs10230559	0.87[ASN][1000 genomes]
rs10234910	0.86[EUR][1000 genomes]
rs10238979	0.85[ASN][1000 genomes]
rs10243000	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10243355	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10252841	0.87[ASN][1000 genomes]
rs10253490	0.87[ASN][1000 genomes]
rs10268452	0.86[EUR][1000 genomes]
rs10274439	0.87[ASN][1000 genomes]
rs10275039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10275417	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10278670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10282548	0.85[ASN][1000 genomes]
rs10952281	0.87[ASN][1000 genomes]
rs11766040	0.87[ASN][1000 genomes]
rs12111764	0.82[ASN][1000 genomes]
rs1879868	0.87[ASN][1000 genomes]
rs1879869	0.87[ASN][1000 genomes]
rs1879870	0.87[ASN][1000 genomes]
rs2049248	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241021	0.89[EUR][1000 genomes]
rs2373817	0.87[ASN][1000 genomes]
rs2373845	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2373847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4490747	0.87[ASN][1000 genomes]
rs4629771	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4993563	0.87[ASN][1000 genomes]
rs58568453	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6942976	0.87[ASN][1000 genomes]
rs6944136	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6947239	0.89[ASN][1000 genomes]
rs6948827	0.87[ASN][1000 genomes]
rs6969364	0.87[ASN][1000 genomes]
rs6980253	0.87[ASN][1000 genomes]
rs73163557	0.86[EUR][1000 genomes]
rs7357320	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7808210	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2373846	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150354800-150362000	Weak transcription	Right Atrium	heart
2	chr7:150357600-150365000	Enhancers	Primary T cells from cord blood	blood
3	chr7:150358000-150365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150358000-150369000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:150358600-150365600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr7:150358800-150362200	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:150359400-150366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150359800-150363400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:150360400-150365400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:150360400-150367000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:150360600-150367000	Enhancers	Fetal Thymus	thymus
12	chr7:150360800-150361600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150360800-150361600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr7:150360800-150361600	Enhancers	Lung	lung
15	chr7:150360800-150361600	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:150360800-150362200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:150360800-150362200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:150360800-150362200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr7:150360800-150362200	Flanking Active TSS	Dnd41	blood
20	chr7:150360800-150363000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:150360800-150363800	Enhancers	Spleen	Spleen
22	chr7:150360800-150364400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:150361000-150361600	Enhancers	Primary B cells from cord blood	blood
24	chr7:150361000-150361600	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:150361200-150364600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:150361200-150365600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:150361200-150366000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:150361400-150362200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:150361400-150362200	Genic enhancers	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links