Variant report

Variant	rs7500933
Chromosome Location	chr16:47146437-47146438
allele	C/T
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	POLR2A	chr16:47146349-47146549	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47144717..47146770-chr16:47176377..47178573,2	K562	blood:

Variant related genes	Relation type
NETO2	TF binding region
ENSG00000260281	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1592541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16954079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955741	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2078255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231983	1.00[AMR][1000 genomes]
rs7185787	1.00[AMR][1000 genomes]
rs7193342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8055204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9745409	1.00[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	nsv1056328	chr16:47011193-47172862	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv1823679	chr16:47089357-47194051	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	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
7	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47110800-47158000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:47114600-47147000	Weak transcription	Brain Anterior Caudate	brain
3	chr16:47115400-47163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:47117600-47170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:47118400-47165000	Weak transcription	Fetal Brain Male	brain
6	chr16:47131400-47154400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:47131600-47147200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:47131600-47163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:47132000-47163200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:47135400-47164000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:47136400-47147400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:47137400-47158600	Weak transcription	HUVEC	blood vessel
13	chr16:47139400-47157400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:47140000-47166200	Weak transcription	K562	blood
15	chr16:47140400-47147800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr16:47140400-47168600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:47141000-47160400	Weak transcription	Left Ventricle	heart
18	chr16:47141000-47161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:47141200-47150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:47142800-47148000	Weak transcription	GM12878-XiMat	blood
21	chr16:47142800-47149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:47143000-47147800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:47143000-47153800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:47143200-47147000	Weak transcription	A549	lung
25	chr16:47143200-47150000	Weak transcription	HSMM	muscle
26	chr16:47143200-47150800	Weak transcription	Hela-S3	cervix
27	chr16:47143200-47154400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:47143200-47163200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:47143600-47155200	Weak transcription	Brain Germinal Matrix	brain
30	chr16:47143600-47160400	Weak transcription	NHEK	skin
31	chr16:47143800-47170200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:47144600-47147000	Weak transcription	NH-A	brain
33	chr16:47144600-47149800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:47144600-47151000	Weak transcription	HMEC	breast
35	chr16:47144800-47146800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:47145200-47146800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:47145400-47148800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:47145600-47151600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:47145800-47148800	Weak transcription	Fetal Brain Female	brain
40	chr16:47146400-47163800	Weak transcription	H1 Cell Line	embryonic stem cell

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