Variant report

Variant	rs72992109
Chromosome Location	chr2:145069312-145069313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145068763..145071658-chr2:145087290..145089082,2	MCF-7	breast:
2	chr2:145065022..145066975-chr2:145068484..145070599,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10183920	1.00[EUR][1000 genomes]
rs16823497	1.00[EUR][1000 genomes]
rs16823498	1.00[EUR][1000 genomes]
rs16823501	1.00[EUR][1000 genomes]
rs16823512	1.00[EUR][1000 genomes]
rs16823515	1.00[EUR][1000 genomes]
rs16823517	1.00[EUR][1000 genomes]
rs16823544	1.00[EUR][1000 genomes]
rs16823609	1.00[EUR][1000 genomes]
rs16823629	1.00[AMR][1000 genomes]
rs16823639	1.00[AMR][1000 genomes]
rs16855310	1.00[EUR][1000 genomes]
rs2042997	1.00[EUR][1000 genomes]
rs55830030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58046208	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60032580	1.00[AMR][1000 genomes]
rs6732179	1.00[EUR][1000 genomes]
rs72992116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992120	1.00[AMR][1000 genomes]
rs73006286	1.00[EUR][1000 genomes]
rs73006287	1.00[EUR][1000 genomes]
rs73006289	1.00[EUR][1000 genomes]
rs73006290	1.00[EUR][1000 genomes]
rs73008203	1.00[EUR][1000 genomes]
rs73008212	1.00[EUR][1000 genomes]
rs7587100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7595013	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145048200-145069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:145049200-145069600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:145059600-145078000	Weak transcription	Left Ventricle	heart
4	chr2:145064000-145077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:145064400-145070000	Weak transcription	Fetal Lung	lung
6	chr2:145066600-145070000	Weak transcription	HSMMtube	muscle
7	chr2:145067600-145070000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:145068600-145078000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:145068800-145070000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:145069000-145069800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:145069000-145069800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:145069000-145070000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:145069000-145070000	Weak transcription	K562	blood
14	chr2:145069000-145077800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:145069000-145077800	Weak transcription	Aorta	Aorta
16	chr2:145069000-145078000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:145069000-145082000	Weak transcription	Fetal Heart	heart
18	chr2:145069200-145069800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:145069200-145069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:145069200-145069800	Weak transcription	HSMM	muscle

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