Variant report

Variant	rs73540863
Chromosome Location	chr16:48135498-48135499
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	chr16:48133347..48136012-chr16:48142209..48144881,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55851123	1.00[AMR][1000 genomes]
rs56009985	1.00[AMR][1000 genomes]
rs57099207	1.00[AMR][1000 genomes]
rs57450977	1.00[AMR][1000 genomes]
rs57753446	1.00[AMR][1000 genomes]
rs57859694	1.00[AMR][1000 genomes]
rs58155673	1.00[AMR][1000 genomes]
rs58567530	0.86[AFR][1000 genomes]
rs58806759	1.00[AMR][1000 genomes]
rs59378421	1.00[AMR][1000 genomes]
rs59721874	1.00[AMR][1000 genomes]
rs59728440	0.86[AFR][1000 genomes]
rs60093932	1.00[AMR][1000 genomes]
rs60387445	1.00[AMR][1000 genomes]
rs60591237	1.00[AMR][1000 genomes]
rs60734072	1.00[AMR][1000 genomes]
rs61080373	1.00[AMR][1000 genomes]
rs61280053	1.00[AMR][1000 genomes]
rs61507438	1.00[AMR][1000 genomes]
rs61639468	1.00[AMR][1000 genomes]
rs73539201	1.00[AMR][1000 genomes]
rs73540804	1.00[AMR][1000 genomes]
rs73540814	1.00[AMR][1000 genomes]
rs73540815	1.00[AMR][1000 genomes]
rs73540818	1.00[AMR][1000 genomes]
rs73540821	1.00[AMR][1000 genomes]
rs73540823	1.00[AMR][1000 genomes]
rs73540824	1.00[AMR][1000 genomes]
rs73540825	1.00[AMR][1000 genomes]
rs73540828	1.00[AMR][1000 genomes]
rs73540848	1.00[AMR][1000 genomes]
rs73540849	1.00[AMR][1000 genomes]
rs73540851	1.00[AMR][1000 genomes]
rs73540857	1.00[AMR][1000 genomes]
rs73540867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018244	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018246	0.86[AFR][1000 genomes]
rs74018247	0.86[AFR][1000 genomes]
rs74018248	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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 target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48127200-48137400	Weak transcription	Right Ventricle	heart
2	chr16:48131800-48138600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:48134600-48135600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:48134600-48135800	Enhancers	Fetal Brain Male	brain
5	chr16:48134800-48135600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:48134800-48135600	Enhancers	HMEC	breast
7	chr16:48134800-48135800	Enhancers	Fetal Muscle Leg	muscle
8	chr16:48134800-48136400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr16:48134800-48136800	Enhancers	Pancreas	Pancrea
10	chr16:48135000-48135600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:48135000-48135600	Enhancers	Psoas Muscle	Psoas
12	chr16:48135000-48135600	Enhancers	NH-A	brain
13	chr16:48135000-48135800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:48135000-48137800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:48135200-48135600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:48135200-48135600	Flanking Active TSS	GM12878-XiMat	blood
17	chr16:48135200-48135600	Enhancers	Osteobl	bone
18	chr16:48135200-48135800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:48135200-48136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:48135200-48139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:48135400-48135600	Bivalent Enhancer	HepG2	liver
22	chr16:48135400-48135800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr16:48135400-48135800	Enhancers	Brain Germinal Matrix	brain
24	chr16:48135400-48136200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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