Variant report

Variant	rs74060477
Chromosome Location	chr12:9281365-9281366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16917975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918033	1.00[AMR][1000 genomes]
rs16918120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918292	1.00[AMR][1000 genomes]
rs1805748	1.00[AMR][1000 genomes]
rs1805764	1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs56966204	1.00[AMR][1000 genomes]
rs58537365	1.00[AMR][1000 genomes]
rs59792548	1.00[AMR][1000 genomes]
rs60190629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297635	1.00[AMR][1000 genomes]
rs7304882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060300	1.00[AMR][1000 genomes]
rs74060302	1.00[AMR][1000 genomes]
rs74060475	1.00[AMR][1000 genomes]
rs74060491	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061403	1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes]
rs74061444	1.00[AMR][1000 genomes]
rs7980046	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv976735	chr12:9274937-9303290	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:9272000-9289000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:9272200-9282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:9275000-9287400	Weak transcription	Gastric	stomach
8	chr12:9277600-9288800	Weak transcription	Right Atrium	heart
9	chr12:9277800-9282000	Weak transcription	Spleen	Spleen
10	chr12:9278000-9283800	Active TSS	Liver	Liver
11	chr12:9278800-9281600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:9279000-9281600	Enhancers	HepG2	liver
13	chr12:9279800-9283600	Weak transcription	Fetal Lung	lung
14	chr12:9280400-9281400	Strong transcription	Primary T cells from cord blood	blood
15	chr12:9280400-9281400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:9280800-9310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:9281000-9288400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:9281200-9284800	Weak transcription	HMEC	breast
19	chr12:9281200-9287600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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