Variant report

Variant	rs73409644
Chromosome Location	chr16:47522549-47522550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:47521997..47524877-chr16:47525537..47527944,2	K562	blood:
2	chr16:47515931..47518831-chr16:47521525..47524348,3	K562	blood:
3	chr16:47479859..47483126-chr16:47518741..47522601,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2456518	1.00[AMR][1000 genomes]
rs62023346	1.00[AMR][1000 genomes]
rs6493569	1.00[AMR][1000 genomes]
rs73409638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409649	1.00[AMR][1000 genomes]
rs73409651	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496200-47526400	Weak transcription	Pancreas	Pancrea
2	chr16:47496200-47532000	Weak transcription	Ovary	ovary
3	chr16:47496200-47538400	Weak transcription	NH-A	brain
4	chr16:47496400-47523400	Weak transcription	Fetal Lung	lung
5	chr16:47496600-47522600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:47498200-47527800	Weak transcription	Small Intestine	intestine
7	chr16:47498400-47526000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:47498800-47526400	Weak transcription	Esophagus	oesophagus
9	chr16:47499000-47526400	Weak transcription	Fetal Stomach	stomach
10	chr16:47499400-47523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:47502200-47523400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:47502400-47533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:47504600-47526400	Weak transcription	Aorta	Aorta
14	chr16:47505600-47524400	Weak transcription	K562	blood
15	chr16:47510000-47524000	Weak transcription	Osteobl	bone
16	chr16:47511800-47526600	Weak transcription	NHLF	lung
17	chr16:47513200-47526000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:47513800-47524400	Weak transcription	Left Ventricle	heart
19	chr16:47515200-47522600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:47516000-47526400	Weak transcription	Right Ventricle	heart
21	chr16:47516200-47523000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:47518600-47524200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:47518800-47531600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:47519400-47527200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:47519600-47523200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:47520400-47525800	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr16:47520600-47523600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:47521000-47536400	Weak transcription	HSMMtube	muscle
29	chr16:47521400-47526200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr16:47521400-47527000	ZNF genes & repeats	Liver	Liver
31	chr16:47521600-47522600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:47521600-47522600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:47521600-47525200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr16:47521600-47525400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr16:47521600-47526200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:47521800-47523800	ZNF genes & repeats	Fetal Brain Female	brain
37	chr16:47521800-47525600	Weak transcription	HepG2	liver
38	chr16:47522200-47522800	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr16:47522400-47522800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr16:47522400-47523600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:47522400-47524400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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