Variant report

Variant	rs72867450
Chromosome Location	chr6:44990478-44990479
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	chr6:44987589..44991130-chr6:44992558..44996333,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs56041234	1.00[EUR][1000 genomes]
rs56218508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59024254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72857008	1.00[AMR][1000 genomes]
rs72857044	1.00[AMR][1000 genomes]
rs72857059	1.00[AMR][1000 genomes]
rs72857065	1.00[AMR][1000 genomes]
rs72857066	1.00[AMR][1000 genomes]
rs72865965	1.00[AMR][1000 genomes]
rs72865980	1.00[AMR][1000 genomes]
rs72867405	1.00[AMR][1000 genomes]
rs72867426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72870914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72870922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738603	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv462938	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv470817	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv603007	chr6:44909515-45008779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2762589	chr6:44982992-45044580	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44966400-44993600	Weak transcription	HepG2	liver
2	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:44977600-44993800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:44981600-44994800	Weak transcription	Aorta	Aorta
5	chr6:44981600-44994800	Weak transcription	Pancreas	Pancrea
6	chr6:44988200-44990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:44988600-44990600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:44988800-44990600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:44989600-44990600	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:44989600-44990600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:44989600-44990600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:44989600-44990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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