Variant report

Variant	rs72873787
Chromosome Location	chr2:46697117-46697118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46688831..46694095-chr2:46695879..46699021,6	K562	blood:
2	chr2:46691531..46694095-chr2:46695293..46698690,3	K562	blood:
3	chr2:46694609..46697439-chr2:46813750..46815810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151665	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17035171	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57689608	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57855710	1.00[EUR][1000 genomes]
rs58237950	1.00[EUR][1000 genomes]
rs59180948	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59376417	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59854247	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60271025	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60752731	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61093993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61436327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498129	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61693092	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61995899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6733052	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6741442	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6741678	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873709	1.00[EUR][1000 genomes]
rs72873728	1.00[EUR][1000 genomes]
rs72873778	1.00[EUR][1000 genomes]
rs72873781	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873789	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72873791	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875604	1.00[EUR][1000 genomes]
rs72875615	1.00[EUR][1000 genomes]
rs72875623	1.00[EUR][1000 genomes]
rs7557688	1.00[EUR][1000 genomes]
rs7568949	1.00[EUR][1000 genomes]
rs7572109	1.00[EUR][1000 genomes]
rs7591555	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3457647	chr2:46694136-46697803	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3457645	chr2:46694184-46697778	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv3457648	chr2:46694207-46697740	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv471779	chr2:46694245-46697693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3457646	chr2:46694260-46697686	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3457649	chr2:46694260-46697686	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv829153	chr2:46694295-46697296	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv829164	chr2:46694295-46697538	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv829175	chr2:46694858-46697538	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv441757	chr2:46696098-46697684	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46686400-46704400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:46689200-46698600	Weak transcription	Hela-S3	cervix
3	chr2:46689200-46704800	Weak transcription	Placenta	Placenta
4	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
5	chr2:46689800-46697400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:46692000-46702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:46695800-46697400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:46695800-46697400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:46696400-46698600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:46696600-46697800	Enhancers	Fetal Thymus	thymus
11	chr2:46696800-46697400	Enhancers	Adipose Nuclei	Adipose
12	chr2:46696800-46697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:46696800-46697600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:46696800-46697800	Enhancers	K562	blood
15	chr2:46696800-46698200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:46696800-46698400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:46697000-46697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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