Variant report

Variant	rs8049905
Chromosome Location	chr16:46969683-46969684
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11860378	1.00[AMR][1000 genomes]
rs11862479	1.00[AMR][1000 genomes]
rs11865169	1.00[AMR][1000 genomes]
rs11865477	1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7197933	1.00[AMR][1000 genomes]
rs7202115	1.00[AMR][1000 genomes]
rs8047174	1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1063660	chr16:46930623-46978792	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr16:46961800-46988600	Weak transcription	Hela-S3	cervix
2	chr16:46964000-46970800	Weak transcription	K562	blood
3	chr16:46964200-46976800	Weak transcription	Placenta	Placenta
4	chr16:46964200-46990600	Weak transcription	Spleen	Spleen
5	chr16:46964200-46991800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:46964600-46970200	Weak transcription	Gastric	stomach
7	chr16:46964600-46988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:46964800-46988000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:46965000-46990600	Weak transcription	Esophagus	oesophagus
10	chr16:46965200-46970000	Weak transcription	Fetal Muscle Leg	muscle
11	chr16:46965200-46973600	Weak transcription	Pancreas	Pancrea
12	chr16:46965200-46977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:46965200-46977400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:46965200-46988000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:46965200-46990800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:46965400-46977200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:46965400-46988000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:46965400-46988600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:46965400-46988600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:46965800-46969800	Weak transcription	Brain Germinal Matrix	brain
21	chr16:46966000-46988800	Weak transcription	Fetal Brain Female	brain
22	chr16:46967000-46977200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:46967200-46972400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:46969400-46970400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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