Variant report

Variant	rs56026849
Chromosome Location	chr16:47537951-47537952
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	FOS	chr16:47537803-47538198	HUVEC	blood vessel:	n/a	chr16:47537978-47537989
2	CTCF	chr16:47537880-47538030	HPF	lung:	n/a	n/a
3	POLR2A	chr16:47537925-47538083	K562	blood:	n/a	n/a
4	FOSL1	chr16:47537735-47538223	HCT-116	colon:	n/a	n/a
5	FOSL1	chr16:47537753-47538130	HCT-116	colon:	n/a	n/a
6	JUND	chr16:47537824-47538137	HepG2	liver:	n/a	chr16:47537978-47537989
7	FOS	chr16:47537810-47538179	MCF10A-Er-Src	breast:	n/a	chr16:47537978-47537989
8	JUN	chr16:47537824-47538157	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr16:47537819-47538167	MCF10A-Er-Src	breast:	n/a	chr16:47537978-47537989
10	FOS	chr16:47537793-47538930	MCF10A-Er-Src	breast:	n/a	chr16:47537978-47537989
11	FOSL2	chr16:47537767-47538093	SK-N-SH	brain:	n/a	n/a
12	FOS	chr16:47537795-47539028	MCF10A-Er-Src	breast:	n/a	chr16:47537978-47537989

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47530496..47533304-chr16:47537314..47539255,2	K562	blood:

Variant related genes	Relation type
RNA5SP425	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12719742	1.00[EUR][1000 genomes]
rs12920938	1.00[EUR][1000 genomes]
rs1420669	1.00[EUR][1000 genomes]
rs171932	1.00[EUR][1000 genomes]
rs2098420	1.00[EUR][1000 genomes]
rs2342693	1.00[EUR][1000 genomes]
rs41427947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41438546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4967849	1.00[EUR][1000 genomes]
rs55915748	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57434681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60269785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61351980	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187698	1.00[EUR][1000 genomes]
rs74016205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053095	1.00[EUR][1000 genomes]
rs8061702	1.00[EUR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496200-47538400	Weak transcription	NH-A	brain
2	chr16:47524600-47545800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:47525800-47538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:47526400-47538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:47526800-47538200	Weak transcription	Stomach Mucosa	stomach
7	chr16:47527000-47538200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:47527000-47538600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:47527000-47538600	Weak transcription	Psoas Muscle	Psoas
10	chr16:47527200-47538600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:47527200-47538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:47527200-47538600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:47527200-47541400	Weak transcription	Right Atrium	heart
14	chr16:47527600-47538000	Weak transcription	NHLF	lung
15	chr16:47527600-47538600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:47528200-47545400	Weak transcription	Small Intestine	intestine
17	chr16:47529600-47538600	Strong transcription	Primary B cells from cord blood	blood
18	chr16:47529800-47538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:47530600-47538600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:47530800-47538600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr16:47530800-47538600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr16:47530800-47538600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:47531200-47538200	Strong transcription	K562	blood
24	chr16:47531200-47538600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr16:47531200-47538600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr16:47531200-47539400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:47531200-47539600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:47531200-47540000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:47531400-47538600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:47531400-47538600	Strong transcription	Primary T cells from cord blood	blood
31	chr16:47531400-47538600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr16:47531400-47538600	Strong transcription	Adipose Nuclei	Adipose
33	chr16:47531400-47538600	Strong transcription	Liver	Liver
34	chr16:47531400-47538600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:47531400-47538600	Strong transcription	Placenta	Placenta
36	chr16:47531400-47538800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:47531400-47539400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr16:47531400-47539600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:47531600-47538600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:47531600-47539000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:47531600-47539400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:47531800-47538600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:47532000-47538000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:47532000-47538600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:47532000-47538600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:47532000-47538600	Strong transcription	Dnd41	blood
47	chr16:47532000-47541600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:47532200-47538600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:47532400-47538600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:47532400-47538600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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