Variant report

Variant	rs115638388
Chromosome Location	chr19:44764407-44764408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr19:44763795-44764422	A549	lung:	n/a	n/a
2	RCOR1	chr19:44763795-44764754	IMR90	lung:	n/a	n/a
3	MAX	chr19:44763927-44764612	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr19:44763789-44764446	MCF-7	breast:	n/a	n/a
5	KAP1	chr19:44763912-44764433	HEK293	kidney:	n/a	n/a
6	POLR2A	chr19:44763816-44764420	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:44763770-44764442	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr19:44763672-44764474	HL-60	blood:	n/a	n/a
9	POLR2A	chr19:44763724-44764555	PFSK-1	brain:	n/a	n/a
10	MAX	chr19:44763811-44764481	MCF-7	breast:	n/a	n/a
11	MAX	chr19:44763905-44764505	A549	lung:	n/a	n/a
12	ETS1	chr19:44763839-44764410	A549	lung:	n/a	n/a
13	POLR2A	chr19:44763800-44764508	MCF-7	breast:	n/a	n/a
14	ZNF263	chr19:44763798-44765474	HEK293-T-REx	kidney:	n/a	n/a
15	MAX	chr19:44763851-44764412	SK-N-SH	brain:	n/a	n/a
16	TAF1	chr19:44763853-44764419	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr19:44763855-44764432	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr19:44763841-44764538	A549	lung:	n/a	n/a
19	EBF1	chr19:44763895-44764408	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:44763852-44764423	HL-60	blood:	n/a	n/a
21	MAX	chr19:44763851-44764954	A549	lung:	n/a	n/a
22	SIN3A	chr19:44763864-44764621	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr19:44763647-44765418	SK-N-SH	brain:	n/a	n/a
24	SIX5	chr19:44763614-44764440	A549	lung:	n/a	n/a
25	GABPA	chr19:44763851-44764422	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:44763867-44764484	H1-neurons	neurons:	n/a	n/a
27	GABPA	chr19:44763550-44764666	MCF-7	breast:	n/a	n/a
28	FOSL2	chr19:44763854-44764408	SK-N-SH	brain:	n/a	chr19:44764089-44764100
29	POLR2A	chr19:44763810-44764594	H1-hESC	embryonic stem cell:	n/a	n/a
30	GABPA	chr19:44763856-44764467	SK-N-SH	brain:	n/a	n/a
31	GABPA	chr19:44763850-44764481	SK-N-SH	brain:	n/a	n/a
32	HCFC1	chr19:44763667-44764476	Hela-S3	cervix:	n/a	n/a
33	E2F6	chr19:44763853-44764512	A549	lung:	n/a	n/a
34	SPI1	chr19:44763858-44764408	HL-60	blood:	n/a	n/a
35	JUND	chr19:44763931-44764467	MCF-7	breast:	n/a	chr19:44764090-44764101
36	TBP	chr19:44763870-44764520	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr19:44763795-44764423	K562	blood:	n/a	n/a
38	MAX	chr19:44763855-44764428	SK-N-SH	brain:	n/a	n/a
39	SIN3AK20	chr19:44763830-44764566	MCF-7	breast:	n/a	n/a
40	POLR2A	chr19:44763997-44764592	HepG2	liver:	n/a	n/a
41	FOSL2	chr19:44763864-44764508	A549	lung:	n/a	chr19:44764089-44764100
42	TCF12	chr19:44763794-44764418	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44764380-44764430	HMEC	breast:	n/a
2	chr19:44764380-44764430	GM12892	blood:	n/a
3	chr19:44764380-44764430	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:44764380-44764430	CMK	blood:	n/a
5	chr19:44764380-44764430	MCF-7	breast:	n/a
6	chr19:44764380-44764430	GM12878	blood:	n/a
7	chr19:44764380-44764430	HIPEpiC	eye:	n/a
8	chr19:44764380-44764430	HEEpiC	esophagus:	n/a
9	chr19:44764380-44764430	NHBE	bronchial:	n/a
10	chr19:44764380-44764430	HCF	heart:	n/a
11	chr19:44764380-44764430	NB4	blood:	n/a
12	chr19:44764380-44764430	SK-N-SH_RA	brain:	n/a
13	chr19:44764380-44764430	GM06990	blood:	n/a
14	chr19:44764380-44764430	AoSMC	blood vessel:	n/a
15	chr19:44764380-44764430	AG10803	skin:	n/a
16	chr19:44764380-44764430	A549	lung:	n/a
17	chr19:44764380-44764430	Hepatocyte	liver:	n/a
18	chr19:44764380-44764430	HL-60	blood:	n/a
19	chr19:44764380-44764430	HCM	heart:	n/a
20	chr19:44764380-44764430	NHDF-neo	bronchial:	n/a
21	chr19:44764380-44764430	HCT-116	colon:	n/a
22	chr19:44764380-44764430	H1-hESC	embryonic stem cell:	embryo
23	chr19:44764380-44764430	Jurkat	blood:	n/a
24	chr19:44764380-44764430	RPTEC	kidney:	n/a
25	chr19:44764380-44764430	ECC-1	luminal epithelium:	n/a
26	chr19:44764380-44764430	AG04449	skin:	fetal
27	chr19:44764380-44764430	HAEpiC	amniotic membrane:	n/a
28	chr19:44764380-44764430	HUVEC	blood vessel:	n/a
29	chr19:44764380-44764430	GM12891	blood:	n/a
30	chr19:44764380-44764430	HEK293	kidney:	embryo
31	chr19:44764380-44764430	HRE	kidney:	n/a
32	chr19:44764380-44764430	PFSK-1	brain:	n/a
33	chr19:44764380-44764430	HRCEpiC	kidney:	n/a
34	chr19:44764380-44764430	Caco-2	colon:	n/a
35	chr19:44764380-44764430	ovcar-3	ovarian:	n/a
36	chr19:44764380-44764430	HCPEpiC	choroid plexus:	n/a
37	chr19:44764380-44764430	HepG2	liver:	n/a
38	chr19:44764380-44764430	U87	brain:	n/a
39	chr19:44764380-44764430	IMR90	lung:	fetal
40	chr19:44764380-44764430	Hela-S3	cervix:	n/a
41	chr19:44764380-44764430	BJ	skin:	n/a
42	chr19:44764380-44764430	AG04450	lung:	fetal
43	chr19:44764380-44764430	HNPCEpiC	eye:	n/a
44	chr19:44764380-44764430	SK-N-SH	brain:	n/a
45	chr19:44764380-44764430	LNCaP	prostate:	n/a
46	chr19:44764380-44764430	GM19239	blood:	n/a
47	chr19:44764380-44764430	SK-N-MC	brain:	n/a
48	chr19:44764380-44764430	K562	blood:	n/a
49	chr19:44764380-44764430	T-47D	breast:	n/a
50	chr19:44764380-44764430	NH-A	brain:	n/a

(count:6 , 50 per page) page: 1

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

No data

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