Variant report

Variant	rs2228199
Chromosome Location	chr16:72822296-72822297
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	chr16:72821675-72822621	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:72822230-72822470	HepG2	liver:	n/a	n/a
3	MAX	chr16:72822239-72822740	NB4	blood:	n/a	n/a
4	MYC	chr16:72822186-72822810	NB4	blood:	n/a	n/a
5	POLR2A	chr16:72821209-72822926	HL-60	blood:	n/a	n/a
6	SPI1	chr16:72822043-72822893	HL-60	blood:	n/a	n/a
7	POLR2A	chr16:72821006-72822768	H1-neurons	neurons:	n/a	n/a
8	REST	chr16:72819630-72822501	H1-neurons	neurons:	n/a	n/a
9	MAZ	chr16:72820696-72822392	IMR90	lung:	n/a	n/a
10	POLR2A	chr16:72820953-72822856	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr16:72821106-72822971	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000265573	TF binding region
ENSG00000259901	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17288954	0.91[EUR][1000 genomes]
rs17359991	0.82[EUR][1000 genomes]
rs62051491	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72818400-72823800	Weak transcription	A549	lung
2	chr16:72819400-72822600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:72820200-72823400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72820400-72827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:72820600-72822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:72820800-72822800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:72821000-72822400	Active TSS	Rectal Smooth Muscle	rectum
8	chr16:72821200-72823800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:72821400-72822600	Active TSS	Colonic Mucosa	Colon
10	chr16:72821400-72822800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr16:72821600-72822600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr16:72821600-72823000	Strong transcription	Pancreas	Pancrea
13	chr16:72821600-72825800	Weak transcription	Hela-S3	cervix
14	chr16:72821600-72835800	Strong transcription	Liver	Liver
15	chr16:72821600-72842800	Strong transcription	HepG2	liver
16	chr16:72821800-72822400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr16:72821800-72822400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:72821800-72822400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:72821800-72822400	Flanking Active TSS	Fetal Brain Female	brain
20	chr16:72821800-72822400	Enhancers	Fetal Heart	heart
21	chr16:72821800-72822600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr16:72821800-72822600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr16:72821800-72822600	Flanking Active TSS	Fetal Thymus	thymus
24	chr16:72821800-72822600	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr16:72821800-72822600	Flanking Active TSS	HSMM	muscle
26	chr16:72821800-72822600	Flanking Active TSS	NH-A	brain
27	chr16:72821800-72822800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:72821800-72822800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr16:72821800-72823000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:72821800-72823400	Genic enhancers	Placenta	Placenta
31	chr16:72821800-72823600	Enhancers	Spleen	Spleen
32	chr16:72821800-72828600	Strong transcription	Dnd41	blood
33	chr16:72821800-72835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:72822000-72822400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:72822000-72822400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr16:72822000-72822400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:72822000-72822400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr16:72822000-72822400	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr16:72822000-72822400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr16:72822000-72822400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:72822000-72822400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr16:72822000-72822400	Genic enhancers	Gastric	stomach
43	chr16:72822000-72822400	Flanking Active TSS	Lung	lung
44	chr16:72822000-72822400	Enhancers	NHDF-Ad	bronchial
45	chr16:72822000-72822400	Transcr. at gene 5' and 3'	NHLF	lung
46	chr16:72822000-72822400	Flanking Active TSS	Osteobl	bone
47	chr16:72822000-72822600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr16:72822000-72822600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr16:72822000-72822600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:72822000-72822600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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