Variant report

Variant	rs11643799
Chromosome Location	chr16:58848979-58848980
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58766921..58769674-chr16:58848418..58849937,2	K562	blood:

Variant related genes	Relation type
ENSG00000245768	Chromatin interaction
ENSG00000125166	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11076256	1.00[ASN][1000 genomes]
rs11643460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11646417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12921667	1.00[ASN][1000 genomes]
rs12921819	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12932254	0.95[EUR][1000 genomes]
rs12932751	1.00[ASN][1000 genomes]
rs34000898	0.95[EUR][1000 genomes]
rs34606766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67219538	0.95[EUR][1000 genomes]
rs7204324	1.00[ASN][1000 genomes]
rs73555772	0.95[EUR][1000 genomes]
rs8050744	0.87[AMR][1000 genomes]
rs8055234	0.87[AMR][1000 genomes];1.00[ASN][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
3	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr16:58848400-58849000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:58848400-58849200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:58848400-58849200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:58848400-58849600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:58848400-58849600	Enhancers	HepG2	liver
6	chr16:58848600-58849000	Enhancers	Colon Smooth Muscle	Colon
7	chr16:58848600-58849000	Flanking Active TSS	A549	lung
8	chr16:58848800-58849000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:58848800-58849000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:58848800-58849000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr16:58848800-58849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:58848800-58849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:58848800-58849000	Enhancers	Brain Hippocampus Middle	brain
14	chr16:58848800-58849000	Enhancers	Fetal Brain Female	brain
15	chr16:58848800-58849000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:58848800-58849200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:58848800-58849600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:58848800-58849800	Enhancers	HMEC	breast
19	chr16:58848800-58849800	Enhancers	NHEK	skin
20	chr16:58848800-58850600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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