Variant report

Variant	rs558979674
Chromosome Location	chr19:44764318-44764319
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	HEY1	chr19:44763846-44764341	HepG2	liver:	n/a	n/a
2	YY1	chr19:44763864-44764358	SK-N-SH_RA	brain:	n/a	n/a
3	GABPA	chr19:44763795-44764422	A549	lung:	n/a	n/a
4	RCOR1	chr19:44763795-44764754	IMR90	lung:	n/a	n/a
5	MAX	chr19:44763927-44764612	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr19:44763990-44764320	GM12878	blood:	n/a	n/a
7	JUND	chr19:44763862-44764372	MCF-7	breast:	n/a	chr19:44764090-44764101
8	MAX	chr19:44763789-44764446	MCF-7	breast:	n/a	n/a
9	ELF1	chr19:44763806-44764391	A549	lung:	n/a	chr19:44764188-44764200 chr19:44764041-44764054
10	GABPA	chr19:44763666-44764327	K562	blood:	n/a	n/a
11	KAP1	chr19:44763912-44764433	HEK293	kidney:	n/a	n/a
12	POLR2A	chr19:44763821-44764390	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:44763816-44764420	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:44763770-44764442	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:44763819-44764386	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:44763829-44764359	HL-60	blood:	n/a	n/a
17	POLR2A	chr19:44763865-44764321	GM12891	blood:	n/a	n/a
18	FOS	chr19:44763927-44764329	HUVEC	blood vessel:	n/a	chr19:44764090-44764101
19	MAX	chr19:44763833-44764348	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr19:44763952-44764318	MCF-7	breast:	n/a	n/a
21	GABPA	chr19:44763672-44764474	HL-60	blood:	n/a	n/a
22	ELF1	chr19:44763840-44764360	MCF-7	breast:	n/a	chr19:44764188-44764200 chr19:44764041-44764054
23	POLR2A	chr19:44763724-44764555	PFSK-1	brain:	n/a	n/a
24	MAX	chr19:44763811-44764481	MCF-7	breast:	n/a	n/a
25	MAX	chr19:44763905-44764505	A549	lung:	n/a	n/a
26	POLR2A	chr19:44763857-44764390	H1-neurons	neurons:	n/a	n/a
27	ETS1	chr19:44763839-44764410	A549	lung:	n/a	n/a
28	POLR2A	chr19:44763800-44764508	MCF-7	breast:	n/a	n/a
29	ZNF263	chr19:44763798-44765474	HEK293-T-REx	kidney:	n/a	n/a
30	MAX	chr19:44763851-44764412	SK-N-SH	brain:	n/a	n/a
31	TAF1	chr19:44763853-44764419	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:44763875-44764322	GM12878	blood:	n/a	n/a
33	MAX	chr19:44763855-44764432	H1-hESC	embryonic stem cell:	n/a	n/a
34	GABPA	chr19:44763841-44764538	A549	lung:	n/a	n/a
35	ELF1	chr19:44763839-44764349	GM12878	blood:	n/a	chr19:44764188-44764200 chr19:44764041-44764054
36	POLR2A	chr19:44763879-44764359	GM12878	blood:	n/a	n/a
37	EBF1	chr19:44763895-44764408	GM12878	blood:	n/a	n/a
38	SP1	chr19:44763731-44764335	A549	lung:	n/a	chr19:44764190-44764202 chr19:44764187-44764201 chr19:44764191-44764200
39	POLR2A	chr19:44763852-44764423	HL-60	blood:	n/a	n/a
40	POLR2A	chr19:44763936-44764322	K562	blood:	n/a	n/a
41	MAX	chr19:44763851-44764954	A549	lung:	n/a	n/a
42	SIN3A	chr19:44763864-44764621	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr19:44763647-44765418	SK-N-SH	brain:	n/a	n/a
44	SIX5	chr19:44763614-44764440	A549	lung:	n/a	n/a
45	JUND	chr19:44763860-44764349	A549	lung:	n/a	chr19:44764090-44764101
46	GABPA	chr19:44763851-44764422	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:44763867-44764484	H1-neurons	neurons:	n/a	n/a
48	KAP1	chr19:44763823-44764389	U2OS	brain:	n/a	n/a
49	POLR2A	chr19:44763687-44764376	PFSK-1	brain:	n/a	n/a
50	CBX3	chr19:44763944-44764322	K562	blood:	n/a	n/a

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:

Variant related genes	Relation type
ZNF233	TF binding region
ENSG00000169908	Chromatin interaction
ENSG00000159915	Chromatin interaction
ENSG00000240541	Chromatin interaction
ENSG00000159917	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:114 , 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	chr19:44763200-44764400	Active TSS	Primary hematopoietic stem cells	blood
4	chr19:44763200-44764800	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr19:44763400-44764400	Active TSS	A549	lung
6	chr19:44763400-44764600	Active TSS	Brain Substantia Nigra	brain
7	chr19:44763400-44764600	Active TSS	Colon Smooth Muscle	Colon
8	chr19:44763400-44764800	Active TSS	Brain Angular Gyrus	brain
9	chr19:44763400-44765400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:44763600-44764400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:44763600-44764400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr19:44763600-44764400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:44763600-44764400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:44763600-44764400	Active TSS	Fetal Brain Female	brain
15	chr19:44763600-44764600	Active TSS	Brain Germinal Matrix	brain
16	chr19:44763600-44764600	Active TSS	Fetal Intestine Large	intestine
17	chr19:44763600-44764600	Active TSS	Fetal Intestine Small	intestine
18	chr19:44763600-44764600	Active TSS	Fetal Lung	lung
19	chr19:44763600-44764800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr19:44763600-44764800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:44763600-44764800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:44763600-44764800	Active TSS	Right Ventricle	heart
23	chr19:44763600-44765000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:44763600-44765000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:44763600-44765000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:44763600-44765000	Active TSS	Brain Hippocampus Middle	brain
27	chr19:44763600-44765200	Active TSS	Duodenum Mucosa	Duodenum
28	chr19:44763800-44764400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:44763800-44764400	Active TSS	Primary T cells from cord blood	blood
30	chr19:44763800-44764400	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:44763800-44764400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr19:44763800-44764400	Active TSS	Fetal Muscle Trunk	muscle
33	chr19:44763800-44764400	Active TSS	Fetal Muscle Leg	muscle
34	chr19:44763800-44764400	Active TSS	Fetal Stomach	stomach
35	chr19:44763800-44764400	Active TSS	Thymus	Thymus
36	chr19:44763800-44764400	Active TSS	HSMM	muscle
37	chr19:44763800-44764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:44763800-44764600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:44763800-44764600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:44763800-44764600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr19:44763800-44764600	Active TSS	Fetal Kidney	kidney
42	chr19:44763800-44764600	Active TSS	Left Ventricle	heart
43	chr19:44763800-44764600	ZNF genes & repeats	Pancreas	Pancrea
44	chr19:44763800-44764600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr19:44763800-44764600	Active TSS	HepG2	liver
46	chr19:44763800-44764800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:44763800-44764800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr19:44763800-44764800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:44763800-44764800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:44763800-44764800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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