Variant report

Variant	rs73558515
Chromosome Location	chr19:44324806-44324807
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	MAX	chr19:44324361-44325051	SK-N-SH	brain:	n/a	chr19:44324607-44324617
2	ZNF143	chr19:44324704-44324904	GM12878	blood:	n/a	chr19:44324842-44324851 chr19:44324844-44324853 chr19:44324835-44324853
3	CTCF	chr19:44324680-44324830	AG04449	skin:	n/a	n/a
4	ETS1	chr19:44324551-44325013	A549	lung:	n/a	chr19:44324842-44324855 chr19:44324841-44324854
5	ZNF143	chr19:44324778-44324872	K562	blood:	n/a	chr19:44324842-44324851 chr19:44324844-44324853 chr19:44324835-44324853
6	MAX	chr19:44324502-44325014	SK-N-SH	brain:	n/a	chr19:44324607-44324617
7	POLR2A	chr19:44324351-44324879	MCF-7	breast:	n/a	n/a
8	MAX	chr19:44324252-44325120	A549	lung:	n/a	chr19:44324607-44324617
9	CTCF	chr19:44324680-44324830	HMEC	breast:	n/a	n/a
10	E2F6	chr19:44324641-44324911	K562	blood:	n/a	n/a
11	SIX5	chr19:44324660-44324925	K562	blood:	n/a	chr19:44324842-44324851 chr19:44324844-44324853
12	GABPA	chr19:44324632-44324969	K562	blood:	n/a	n/a
13	MAX	chr19:44324472-44325083	A549	lung:	n/a	chr19:44324607-44324617
14	NRF1	chr19:44324515-44325124	SK-N-SH	brain:	n/a	n/a
15	GABPA	chr19:44324562-44325038	A549	lung:	n/a	n/a
16	GABPA	chr19:44324617-44324993	A549	lung:	n/a	n/a
17	MAX	chr19:44324498-44324963	H1-hESC	embryonic stem cell:	n/a	chr19:44324607-44324617
18	CTCF	chr19:44324740-44324890	BJ	skin:	n/a	n/a
19	ZNF143	chr19:44324652-44325002	H1-hESC	embryonic stem cell:	n/a	chr19:44324842-44324851 chr19:44324844-44324853 chr19:44324835-44324853
20	ELF1	chr19:44324710-44324979	K562	blood:	n/a	n/a
21	SIX5	chr19:44324625-44324968	A549	lung:	n/a	chr19:44324842-44324851 chr19:44324844-44324853
22	POLR2A	chr19:44324772-44324942	ProgFib	skin:	n/a	n/a
23	E2F6	chr19:44324437-44325027	A549	lung:	n/a	n/a
24	CTCF	chr19:44324760-44324910	HCPEpiC	choroid plexus:	n/a	n/a
25	HCFC1	chr19:44324675-44324960	K562	blood:	n/a	n/a
26	POLR2A	chr19:44324314-44324921	Gliobla	brain:	n/a	n/a
27	E2F6	chr19:44324460-44324925	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44171987..44174273-chr19:44322847..44324891,2	K562	blood:
2	chr19:44096922..44099842-chr19:44324178..44326451,2	K562	blood:
3	chr19:44323198..44325701-chr19:44330167..44332994,2	K562	blood:

Variant related genes	Relation type
LYPD5	TF binding region
ENSG00000011422	Chromatin interaction
ENSG00000167637	Chromatin interaction
ENSG00000268361	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000159871	Chromatin interaction

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

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

rs_ID	r²[population]
rs7259096	0.86[AFR][1000 genomes]
rs73558915	0.94[AFR][1000 genomes];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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44324000-44325000	ZNF genes & repeats	Lung	lung
2	chr19:44324000-44325200	ZNF genes & repeats	Liver	Liver
3	chr19:44324000-44325200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
4	chr19:44324000-44325400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:44324000-44325400	ZNF genes & repeats	GM12878-XiMat	blood
6	chr19:44324200-44325000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:44324200-44325000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:44324200-44325000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:44324200-44325000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:44324200-44325000	ZNF genes & repeats	Aorta	Aorta
11	chr19:44324200-44325000	Flanking Active TSS	Esophagus	oesophagus
12	chr19:44324200-44325000	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr19:44324200-44325000	Flanking Active TSS	Left Ventricle	heart
14	chr19:44324200-44325000	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
15	chr19:44324200-44325000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr19:44324200-44325200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:44324200-44325200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
18	chr19:44324200-44325200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr19:44324200-44325200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr19:44324200-44325200	Active TSS	Brain Substantia Nigra	brain
21	chr19:44324200-44325200	Flanking Active TSS	HMEC	breast
22	chr19:44324200-44325600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:44324400-44325000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:44324400-44325000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr19:44324400-44325000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:44324400-44325000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
30	chr19:44324400-44325000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:44324400-44325000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr19:44324400-44325000	Flanking Active TSS	Gastric	stomach
36	chr19:44324400-44325000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr19:44324400-44325000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
38	chr19:44324400-44325200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr19:44324400-44325200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr19:44324400-44325200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr19:44324400-44325200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
42	chr19:44324400-44325200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr19:44324400-44325200	Bivalent/Poised TSS	A549	lung
44	chr19:44324400-44325200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr19:44324400-44325400	Active TSS	Brain Angular Gyrus	brain
46	chr19:44324400-44325400	Active TSS	Brain Cingulate Gyrus	brain
47	chr19:44324400-44325400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr19:44324600-44325000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:44324600-44325000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr19:44324600-44325000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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