Variant report

Variant	rs4808920
Chromosome Location	chr19:19216613-19216614
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	ZBTB7A	chr19:19216509-19216877	K562	blood:	n/a	n/a
2	MYC	chr19:19216097-19216939	K562	blood:	n/a	n/a
3	POLR2A	chr19:19216141-19216792	K562	blood:	n/a	n/a
4	POLR2A	chr19:19215993-19217241	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr19:19216203-19217248	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr19:19216584-19216868	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr19:19216264-19216965	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr19:19216067-19217358	H1-hESC	embryonic stem cell:	n/a	chr19:19216293-19216304
9	YY1	chr19:19216145-19217224	H1-hESC	embryonic stem cell:	n/a	chr19:19216317-19216331 chr19:19216266-19216277 chr19:19217161-19217181
10	POLR2A	chr19:19216123-19216684	K562	blood:	n/a	n/a
11	SIN3AK20	chr19:19216151-19216622	K562	blood:	n/a	n/a
12	E2F6	chr19:19216180-19216616	K562	blood:	n/a	chr19:19216274-19216283 chr19:19216425-19216436
13	EGR1	chr19:19216098-19216707	H1-hESC	embryonic stem cell:	n/a	chr19:19216275-19216288 chr19:19216275-19216288 chr19:19216275-19216288 chr19:19216273-19216283 chr19:19216274-19216288 chr19:19216276-19216286 chr19:19216276-19216287
14	E2F6	chr19:19216216-19216730	H1-hESC	embryonic stem cell:	n/a	chr19:19216274-19216283 chr19:19216425-19216436
15	POLR2A	chr19:19216220-19217225	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr19:19216142-19216663	A549	lung:	n/a	n/a
17	YY1	chr19:19216252-19217031	H1-hESC	embryonic stem cell:	n/a	chr19:19216317-19216331 chr19:19216266-19216277
18	IRF1	chr19:19216106-19216789	K562	blood:	n/a	chr19:19216270-19216284
19	ELF1	chr19:19216122-19216713	K562	blood:	n/a	chr19:19216273-19216285
20	MAX	chr19:19216146-19216798	A549	lung:	n/a	n/a
21	POLR2A	chr19:19216188-19216735	PFSK-1	brain:	n/a	n/a
22	USF2	chr19:19216324-19216775	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:19215178-19217344	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr19:19215683-19216852	K562	blood:	n/a	n/a
25	POLR2A	chr19:19215840-19216776	HCT-116	colon:	n/a	n/a
26	POLR2A	chr19:19216153-19216781	H1-hESC	embryonic stem cell:	n/a	n/a
27	EGR1	chr19:19216112-19216889	K562	blood:	n/a	chr19:19216275-19216288 chr19:19216779-19216793 chr19:19216275-19216288 chr19:19216275-19216288 chr19:19216273-19216283 chr19:19216274-19216288 chr19:19216775-19216797 chr19:19216276-19216286 chr19:19216780-19216793 chr19:19216276-19216287
28	SP4	chr19:19216251-19216791	H1-hESC	embryonic stem cell:	n/a	chr19:19216541-19216552 chr19:19216567-19216578
29	YY1	chr19:19216196-19216716	ECC-1	luminal epithelium:	n/a	chr19:19216317-19216331 chr19:19216266-19216277
30	POLR2A	chr19:19215303-19217108	K562	blood:	n/a	n/a
31	SP1	chr19:19216151-19216656	A549	lung:	n/a	chr19:19216230-19216239 chr19:19216212-19216221 chr19:19216541-19216552 chr19:19216272-19216284 chr19:19216272-19216284 chr19:19216210-19216222 chr19:19216274-19216283 chr19:19216230-19216240 chr19:19216273-19216282 chr19:19216567-19216578
32	SP4	chr19:19216260-19216988	H1-hESC	embryonic stem cell:	n/a	chr19:19216541-19216552 chr19:19216567-19216578
33	E2F6	chr19:19216175-19217300	H1-hESC	embryonic stem cell:	n/a	chr19:19216274-19216283 chr19:19216425-19216436
34	POLR2A	chr19:19216209-19216657	HepG2	liver:	n/a	n/a
35	GTF2F1	chr19:19216257-19216840	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:19216179-19216710	A549	lung:	n/a	n/a
37	MXI1	chr19:19216309-19216913	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:19215951-19217423	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr19:19216424-19216918	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr19:19216607-19216883	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:19216131-19216685	K562	blood:	n/a	n/a
42	MAX	chr19:19216243-19217069	H1-hESC	embryonic stem cell:	n/a	n/a
43	CCNT2	chr19:19216249-19216657	K562	blood:	n/a	chr19:19216268-19216277
44	SP1	chr19:19216065-19217022	H1-hESC	embryonic stem cell:	n/a	chr19:19216230-19216239 chr19:19216979-19216988 chr19:19216980-19216989 chr19:19216212-19216221 chr19:19216541-19216552 chr19:19216272-19216284 chr19:19216862-19216876 chr19:19216272-19216284 chr19:19216210-19216222 chr19:19216274-19216283 chr19:19216230-19216240 chr19:19216979-19216988 chr19:19216273-19216282 chr19:19216567-19216578
45	ELF1	chr19:19216121-19216634	K562	blood:	n/a	chr19:19216273-19216285
46	POLR2A	chr19:19215354-19217122	K562	blood:	n/a	n/a
47	MAX	chr19:19216033-19216722	K562	blood:	n/a	n/a
48	POLR2A	chr19:19216028-19216867	HCT-116	colon:	n/a	n/a
49	MAX	chr19:19216151-19217271	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr19:19216241-19216725	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19163617..19166587-chr19:19215138..19216641,2	K562	blood:
2	chr19:19208308..19213964-chr19:19214081..19217541,6	K562	blood:
3	chr19:19215004..19217931-chr19:19737020..19738746,2	K562	blood:
4	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
5	chr19:19029097..19030687-chr19:19216352..19218052,2	K562	blood:
6	chr11:66383694..66384673-chr19:19215983..19216865,2	HCT-116	colon:
7	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:

Variant related genes	Relation type
SLC25A42	TF binding region
ENSG00000248643	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10425520	1.00[AMR][1000 genomes]
rs11880622	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
2	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:19194600-19229400	Weak transcription	Dnd41	blood
6	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
7	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:19208600-19221400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:19209000-19223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:19209400-19221000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:19212400-19217800	Weak transcription	Primary T cells from cord blood	blood
14	chr19:19212400-19218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:19212400-19218400	Weak transcription	Brain Substantia Nigra	brain
16	chr19:19212400-19221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:19212400-19221400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:19212600-19218400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:19212600-19218600	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:19212600-19220600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr19:19212600-19221600	Weak transcription	Brain Angular Gyrus	brain
22	chr19:19212600-19229600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
24	chr19:19212800-19217000	Weak transcription	Thymus	Thymus
25	chr19:19212800-19221200	Weak transcription	Gastric	stomach
26	chr19:19213200-19218200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:19214000-19217600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:19214200-19216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:19214200-19221200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:19214600-19218200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:19215400-19220800	Strong transcription	Liver	Liver
32	chr19:19215600-19217400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:19215600-19219000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:19215800-19216800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:19215800-19216800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:19215800-19217000	Active TSS	Esophagus	oesophagus
37	chr19:19215800-19217000	Active TSS	Hela-S3	cervix
38	chr19:19215800-19217200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:19215800-19217200	Active TSS	Rectal Smooth Muscle	rectum
40	chr19:19215800-19217200	Enhancers	Stomach Mucosa	stomach
41	chr19:19215800-19217200	Active TSS	A549	lung
42	chr19:19215800-19217400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr19:19215800-19217400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:19215800-19217400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:19215800-19217400	Enhancers	Fetal Heart	heart
46	chr19:19215800-19217400	Active TSS	Fetal Kidney	kidney
47	chr19:19216000-19216800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:19216000-19216800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:19216000-19216800	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr19:19216000-19216800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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