Variant report

Variant	rs545326357
Chromosome Location	chr19:44764588-44764589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:44763795-44764754	IMR90	lung:	n/a	n/a
2	MAX	chr19:44763927-44764612	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr19:44763798-44765474	HEK293-T-REx	kidney:	n/a	n/a
4	MAX	chr19:44763851-44764954	A549	lung:	n/a	n/a
5	SIN3A	chr19:44763864-44764621	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr19:44763647-44765418	SK-N-SH	brain:	n/a	n/a
7	GABPA	chr19:44763550-44764666	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:44763810-44764594	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:44764509-44764651	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:44763997-44764592	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:44764539-44764680	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44764453..44767160-chr19:44768719..44770239,2	K562	blood:
2	chr19:44763153..44765827-chr19:44767005..44769957,2	MCF-7	breast:
3	chr19:44762662..44765169-chr19:44806024..44808707,2	K562	blood:
4	chr19:44763689..44765733-chr19:44807177..44810075,2	MCF-7	breast:
5	chr19:44763704..44764619-chr3:149095039..149095904,2	Hela-S3	cervix:
6	chr19:44764212..44765954-chr19:44776988..44779803,2	MCF-7	breast:
7	chr19:44763163..44765702-chr19:44978103..44979674,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF233	TF binding region
ENSG00000240541	Chromatin interaction
ENSG00000159917	Chromatin interaction
ENSG00000159915	Chromatin interaction
ENSG00000169908	Chromatin interaction
ENSG00000267242	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	nsv521923	chr19:44764064-44769974	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44729800-44768600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:44730000-44775600	ZNF genes & repeats	Liver	Liver
3	chr19:44763200-44764800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr19:44763400-44764600	Active TSS	Brain Substantia Nigra	brain
5	chr19:44763400-44764600	Active TSS	Colon Smooth Muscle	Colon
6	chr19:44763400-44764800	Active TSS	Brain Angular Gyrus	brain
7	chr19:44763400-44765400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:44763600-44764600	Active TSS	Brain Germinal Matrix	brain
9	chr19:44763600-44764600	Active TSS	Fetal Intestine Large	intestine
10	chr19:44763600-44764600	Active TSS	Fetal Intestine Small	intestine
11	chr19:44763600-44764600	Active TSS	Fetal Lung	lung
12	chr19:44763600-44764800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:44763600-44764800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:44763600-44764800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:44763600-44764800	Active TSS	Right Ventricle	heart
16	chr19:44763600-44765000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:44763600-44765000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:44763600-44765000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:44763600-44765000	Active TSS	Brain Hippocampus Middle	brain
20	chr19:44763600-44765200	Active TSS	Duodenum Mucosa	Duodenum
21	chr19:44763800-44764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:44763800-44764600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44763800-44764600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:44763800-44764600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr19:44763800-44764600	Active TSS	Fetal Kidney	kidney
26	chr19:44763800-44764600	Active TSS	Left Ventricle	heart
27	chr19:44763800-44764600	ZNF genes & repeats	Pancreas	Pancrea
28	chr19:44763800-44764600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr19:44763800-44764600	Active TSS	HepG2	liver
30	chr19:44763800-44764800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:44763800-44764800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:44763800-44764800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:44763800-44764800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr19:44763800-44764800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:44763800-44764800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr19:44763800-44764800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:44763800-44764800	Active TSS	Colonic Mucosa	Colon
38	chr19:44763800-44764800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr19:44763800-44764800	ZNF genes & repeats	Right Atrium	heart
40	chr19:44763800-44764800	Active TSS	Stomach Smooth Muscle	stomach
41	chr19:44763800-44764800	Active TSS	NHLF	lung
42	chr19:44763800-44765000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:44763800-44765000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:44763800-44765000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr19:44763800-44765000	Active TSS	Brain Cingulate Gyrus	brain
46	chr19:44763800-44765000	ZNF genes & repeats	Esophagus	oesophagus
47	chr19:44763800-44765000	Active TSS	GM12878-XiMat	blood
48	chr19:44763800-44765200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr19:44763800-44765200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:44763800-44765200	Active TSS	Skeletal Muscle Male	skeletal muscle

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