Variant report

Variant	rs16945384
Chromosome Location	chr16:47529823-47529824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr16:47529774-47529909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:47525470..47528929-chr16:47529310..47531688,3	K562	blood:
2	chr16:47493923..47496746-chr16:47529006..47531243,3	K562	blood:
3	chr16:47494533..47496670-chr16:47528896..47531498,2	MCF-7	breast:
4	chr16:47481523..47483741-chr16:47529384..47531603,2	K562	blood:

Variant related genes	Relation type
PHKB	TF binding region
ENSG00000102893	Chromatin interaction
ENSG00000129636	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015589	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12595881	0.84[ASN][1000 genomes]
rs16955202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3785336	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs72800630	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72800655	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72800660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72800664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72800677	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72800686	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
10	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	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
13	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
14	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496200-47532000	Weak transcription	Ovary	ovary
2	chr16:47496200-47538400	Weak transcription	NH-A	brain
3	chr16:47502400-47533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:47518800-47531600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:47521000-47536400	Weak transcription	HSMMtube	muscle
6	chr16:47524600-47545800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:47525200-47533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:47525400-47532600	Weak transcription	Fetal Heart	heart
9	chr16:47525800-47536800	Weak transcription	A549	lung
10	chr16:47525800-47538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:47526200-47532000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:47526200-47537800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:47526400-47538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:47526600-47532000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:47526600-47532400	Weak transcription	Right Ventricle	heart
17	chr16:47526600-47533400	Weak transcription	Fetal Brain Male	brain
18	chr16:47526600-47537800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:47526800-47530600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr16:47526800-47532000	Weak transcription	Fetal Intestine Large	intestine
21	chr16:47526800-47533200	Weak transcription	Fetal Thymus	thymus
22	chr16:47526800-47538200	Weak transcription	Stomach Mucosa	stomach
23	chr16:47527000-47531400	Weak transcription	Liver	Liver
24	chr16:47527000-47531400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:47527000-47531400	Weak transcription	Placenta	Placenta
26	chr16:47527000-47532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:47527000-47532400	Weak transcription	Esophagus	oesophagus
28	chr16:47527000-47532600	Weak transcription	Brain Germinal Matrix	brain
29	chr16:47527000-47533200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:47527000-47533600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:47527000-47533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:47527000-47537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:47527000-47538200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:47527000-47538600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:47527000-47538600	Weak transcription	Psoas Muscle	Psoas
36	chr16:47527200-47530600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:47527200-47531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:47527200-47531400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr16:47527200-47532200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:47527200-47532200	Weak transcription	Aorta	Aorta
41	chr16:47527200-47532200	Weak transcription	Fetal Stomach	stomach
42	chr16:47527200-47532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:47527200-47532400	Weak transcription	Fetal Muscle Leg	muscle
44	chr16:47527200-47532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:47527200-47532600	Weak transcription	Fetal Brain Female	brain
46	chr16:47527200-47532800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:47527200-47533000	Weak transcription	Colonic Mucosa	Colon
48	chr16:47527200-47533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:47527200-47533200	Weak transcription	Brain Anterior Caudate	brain
50	chr16:47527200-47533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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