Variant report

Variant	rs60008411
Chromosome Location	chr6:45084558-45084559
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	chr6:45083331..45086142-chr6:45155794..45158780,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55906653	1.00[AMR][1000 genomes]
rs56028941	1.00[AMR][1000 genomes]
rs59248696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60466482	1.00[AMR][1000 genomes]
rs6938262	1.00[AMR][1000 genomes]
rs73735258	1.00[AMR][1000 genomes]
rs73735267	1.00[AMR][1000 genomes]
rs73737901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1026728	chr6:45001948-45126730	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538213	chr6:45001948-45126730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv885865	chr6:45012223-45102025	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45082400-45085600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:45082800-45085200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:45082800-45085800	Enhancers	Dnd41	blood
4	chr6:45083200-45085400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:45083200-45086200	Enhancers	Fetal Heart	heart
6	chr6:45083400-45084600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:45083400-45084600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:45083400-45084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:45083400-45085200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:45083400-45085200	Enhancers	HMEC	breast
11	chr6:45083400-45085400	Enhancers	NHDF-Ad	bronchial
12	chr6:45083400-45086800	Enhancers	HSMM	muscle
13	chr6:45083600-45085000	Enhancers	NHLF	lung
14	chr6:45083800-45085200	Enhancers	Osteobl	bone
15	chr6:45084000-45085000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:45084000-45085000	Enhancers	NH-A	brain
17	chr6:45084000-45085200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:45084000-45085200	Enhancers	Primary T cells from cord blood	blood
19	chr6:45084200-45084600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:45084200-45084800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:45084200-45084800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:45084200-45085000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:45084200-45085000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:45084200-45085000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:45084200-45085000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:45084200-45085000	Enhancers	NHEK	skin
27	chr6:45084400-45084600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:45084400-45084600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:45084400-45085000	Enhancers	HUVEC	blood vessel

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