Variant report

Variant	rs73556272
Chromosome Location	chr19:44555579-44555580
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	GATA3	chr19:44555312-44556611	A549	lung:	n/a	n/a
2	STAT1	chr19:44555064-44556407	Hela-S3	cervix:	n/a	chr19:44555994-44556002 chr19:44556063-44556071 chr19:44555813-44555833 chr19:44555973-44555981 chr19:44555971-44555982 chr19:44555992-44556003 chr19:44555988-44556008
3	POLR2A	chr19:44555255-44555660	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:44555158-44556552	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:44555250-44556537	MCF-7	breast:	n/a	n/a
6	ELF1	chr19:44555487-44556409	A549	lung:	n/a	chr19:44556174-44556185 chr19:44556174-44556185
7	TCF12	chr19:44555317-44556615	A549	lung:	n/a	n/a
8	KAP1	chr19:44555513-44556232	HEK293	kidney:	n/a	n/a
9	GABPA	chr19:44555300-44555690	K562	blood:	n/a	n/a
10	POLR2A	chr19:44555443-44555619	H1-hESC	embryonic stem cell:	n/a	n/a
11	GABPA	chr19:44555291-44556451	HL-60	blood:	n/a	n/a
12	GABPA	chr19:44555530-44556559	SK-N-SH	brain:	n/a	n/a
13	ELF1	chr19:44555284-44556488	MCF-7	breast:	n/a	chr19:44556174-44556185 chr19:44556174-44556185
14	GABPA	chr19:44555259-44556498	MCF-7	breast:	n/a	n/a
15	ELF1	chr19:44555565-44556514	SK-N-SH	brain:	n/a	chr19:44556174-44556185 chr19:44556174-44556185
16	PBX3	chr19:44555565-44555734	GM12878	blood:	n/a	n/a
17	GABPA	chr19:44555289-44556670	A549	lung:	n/a	n/a
18	POLR2A	chr19:44555294-44556416	GM18505	blood:	n/a	n/a
19	SP1	chr19:44555559-44556406	A549	lung:	n/a	chr19:44556352-44556364 chr19:44556115-44556127 chr19:44556116-44556126 chr19:44556115-44556127 chr19:44556353-44556362 chr19:44556117-44556126
20	REST	chr19:44555159-44556539	HL-60	blood:	n/a	n/a
21	YY1	chr19:44555558-44556450	A549	lung:	n/a	n/a
22	GABPA	chr19:44555533-44556670	SK-N-SH	brain:	n/a	n/a
23	ELF1	chr19:44555188-44556390	MCF-7	breast:	n/a	chr19:44556174-44556185 chr19:44556174-44556185
24	SP1	chr19:44555541-44556564	A549	lung:	n/a	chr19:44556352-44556364 chr19:44556115-44556127 chr19:44556116-44556126 chr19:44556115-44556127 chr19:44556353-44556362 chr19:44556117-44556126
25	MAX	chr19:44555578-44556301	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr19:44555480-44555908	K562	blood:	n/a	n/a
27	HCFC1	chr19:44555495-44556655	Hela-S3	cervix:	n/a	n/a
28	ZEB1	chr19:44555333-44556719	HepG2	liver:	n/a	chr19:44556046-44556055
29	GABPA	chr19:44555201-44556727	MCF-7	breast:	n/a	n/a
30	POLR2A	chr19:44555203-44556494	HL-60	blood:	n/a	n/a
31	MAX	chr19:44555202-44556654	A549	lung:	n/a	n/a
32	GABPA	chr19:44555465-44556651	A549	lung:	n/a	n/a
33	SIN3A	chr19:44555406-44556706	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIX5	chr19:44555363-44556586	A549	lung:	n/a	chr19:44556000-44556009 chr19:44555823-44555832 chr19:44555998-44556007
35	SIN3AK20	chr19:44555415-44556603	MCF-7	breast:	n/a	n/a
36	POLR2A	chr19:44555305-44556500	MCF-7	breast:	n/a	n/a
37	SIN3AK20	chr19:44555429-44556356	A549	lung:	n/a	n/a
38	POLR2A	chr19:44555260-44556389	GM12891	blood:	n/a	n/a
39	REST	chr19:44555489-44556735	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr19:44555187-44556456	HL-60	blood:	n/a	n/a
41	USF1	chr19:44555549-44556386	A549	lung:	n/a	n/a
42	STAT1	chr19:44555441-44555611	GM12878	blood:	n/a	n/a
43	MAX	chr19:44555507-44556467	A549	lung:	n/a	n/a
44	GABPA	chr19:44555044-44556557	HL-60	blood:	n/a	n/a
45	MAX	chr19:44555307-44556417	MCF-7	breast:	n/a	n/a
46	POLR2A	chr19:44555293-44555638	GM12891	blood:	n/a	n/a
47	TCF12	chr19:44555495-44556459	ECC-1	luminal epithelium:	n/a	n/a
48	CHD2	chr19:44555446-44556479	GM12878	blood:	n/a	n/a
49	ETS1	chr19:44555433-44556540	A549	lung:	n/a	chr19:44555997-44556010 chr19:44556172-44556182 chr19:44556174-44556183 chr19:44556174-44556183 chr19:44556171-44556187 chr19:44556113-44556124 chr19:44556174-44556183 chr19:44555996-44556007 chr19:44556174-44556183 chr19:44555998-44556011 chr19:44556174-44556183 chr19:44555977-44555990 chr19:44556174-44556183 chr19:44556172-44556183 chr19:44555821-44555832 chr19:44556174-44556183 chr19:44556138-44556151
50	SPI1	chr19:44554848-44556394	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44554851..44557017-chr19:44574695..44576778,3	MCF-7	breast:
2	chr19:44555396..44557599-chr19:44598429..44600981,2	MCF-7	breast:
3	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF223-1	chr19:44555520-44555954	NONHSAT066655

Variant related genes	Relation type
ZNF223	TF binding region
ENSG00000186026	Chromatin interaction
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61729338	0.96[AFR][1000 genomes]
rs73556269	0.83[AMR][1000 genomes]
rs73556278	0.98[AFR][1000 genomes]
rs73558229	0.96[AFR][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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44554600-44555800	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr19:44554600-44556000	Flanking Active TSS	NHEK	skin
3	chr19:44554800-44555800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:44554800-44556000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:44554800-44556000	ZNF genes & repeats	GM12878-XiMat	blood
6	chr19:44554800-44556400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr19:44554800-44556800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:44554800-44556800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:44554800-44556800	Active TSS	Psoas Muscle	Psoas
10	chr19:44554800-44557000	Active TSS	Colonic Mucosa	Colon
11	chr19:44554800-44557000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:44554800-44557200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:44554800-44557200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:44555000-44555600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:44555000-44555600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:44555000-44555600	ZNF genes & repeats	Aorta	Aorta
17	chr19:44555000-44555600	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr19:44555000-44555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr19:44555000-44556000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr19:44555000-44556000	Flanking Active TSS	HMEC	breast
21	chr19:44555000-44556400	Active TSS	Primary T cells from cord blood	blood
22	chr19:44555000-44556400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:44555000-44556400	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr19:44555000-44556400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:44555000-44556600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr19:44555000-44556800	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr19:44555000-44556800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:44555000-44556800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:44555000-44556800	Active TSS	Fetal Kidney	kidney
30	chr19:44555000-44556800	Active TSS	Thymus	Thymus
31	chr19:44555000-44556800	Active TSS	A549	lung
32	chr19:44555000-44557000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr19:44555000-44557200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:44555000-44557200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:44555000-44557200	Active TSS	Fetal Intestine Large	intestine
36	chr19:44555000-44557400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:44555000-44557600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:44555200-44555600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr19:44555200-44555600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr19:44555200-44555600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:44555200-44555600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:44555200-44555600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr19:44555200-44555600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr19:44555200-44555600	Flanking Active TSS	Esophagus	oesophagus
45	chr19:44555200-44555600	Flanking Active TSS	Fetal Brain Female	brain
46	chr19:44555200-44555600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr19:44555200-44555600	Flanking Active TSS	Fetal Thymus	thymus
48	chr19:44555200-44555600	Flanking Active TSS	Left Ventricle	heart
49	chr19:44555200-44555600	Flanking Active TSS	Pancreas	Pancrea
50	chr19:44555200-44555600	Flanking Active TSS	Right Ventricle	heart

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