Variant report

Variant	rs557399842
Chromosome Location	chr19:41882208-41882209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41882038-41882694	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:41881952-41883286	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr19:41882039-41882625	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:41882078-41882891	SK-N-MC	brain:	n/a	n/a
5	ZBTB33	chr19:41882131-41882661	A549	lung:	n/a	n/a
6	POLR2A	chr19:41882182-41883533	A549	lung:	n/a	n/a
7	BCL3	chr19:41881874-41883724	A549	lung:	n/a	chr19:41882570-41882579
8	POLR2A	chr19:41882176-41883384	K562	blood:	n/a	n/a
9	TCF12	chr19:41882120-41882643	A549	lung:	n/a	n/a
10	NR3C1	chr19:41881954-41882619	A549	lung:	n/a	n/a
11	PBX3	chr19:41882144-41883695	A549	lung:	n/a	n/a
12	ATF3	chr19:41881994-41882483	A549	lung:	n/a	n/a
13	NR3C1	chr19:41882025-41882910	A549	lung:	n/a	n/a
14	CEBPB	chr19:41882100-41882753	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr19:41882165-41882569	IMR90	lung:	n/a	n/a
16	MTA3	chr19:41882030-41883338	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:41882183-41882865	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:41882141-41883069	GM12878	blood:	n/a	n/a
19	CEBPB	chr19:41882133-41882585	MCF-7	breast:	n/a	n/a
20	NR3C1	chr19:41881957-41882560	A549	lung:	n/a	n/a
21	POLR2A	chr19:41881878-41883460	HepG2	liver:	n/a	n/a
22	POLR2A	chr19:41882151-41882735	HUVEC	blood vessel:	n/a	n/a
23	TCF12	chr19:41881959-41883493	A549	lung:	n/a	n/a
24	POLR2A	chr19:41882128-41882580	MCF10A-Er-Src	breast:	n/a	n/a
25	CEBPB	chr19:41882189-41882544	K562	blood:	n/a	n/a
26	POLR2A	chr19:41882194-41882452	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:41882091-41882872	HepG2	liver:	n/a	n/a
28	CEBPB	chr19:41882171-41882563	HepG2	liver:	n/a	n/a
29	FOXP2	chr19:41882136-41882523	SK-N-MC	brain:	n/a	n/a
30	FOSL2	chr19:41882043-41882969	HepG2	liver:	n/a	chr19:41882757-41882765 chr19:41882380-41882389
31	CEBPB	chr19:41882080-41882586	A549	lung:	n/a	n/a
32	CEBPB	chr19:41882169-41882599	ECC-1	luminal epithelium:	n/a	n/a
33	SIN3A	chr19:41882178-41882919	H1-hESC	embryonic stem cell:	n/a	n/a
34	NR3C1	chr19:41882176-41882419	A549	lung:	n/a	n/a
35	FOXA1	chr19:41882103-41882468	A549	lung:	n/a	n/a
36	CEBPB	chr19:41882070-41882645	MCF-7	breast:	n/a	n/a
37	POLR2A	chr19:41882179-41882555	A549	lung:	n/a	n/a
38	POLR2A	chr19:41882150-41883300	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXA1	chr19:41882059-41882510	HepG2	liver:	n/a	n/a
40	BCL3	chr19:41881822-41883679	A549	lung:	n/a	chr19:41882570-41882579
41	SIN3AK20	chr19:41882005-41882520	A549	lung:	n/a	n/a
42	CEBPB	chr19:41882174-41882563	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr19:41882169-41882518	K562	blood:	n/a	n/a
44	CEBPB	chr19:41882016-41882792	A549	lung:	n/a	n/a
45	CEBPD	chr19:41882162-41882501	HepG2	liver:	n/a	n/a
46	CHD2	chr19:41882175-41882705	HepG2	liver:	n/a	n/a
47	FOS	chr19:41882165-41882374	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr19:41882174-41882343	MCF10A-Er-Src	breast:	n/a	n/a
49	CEBPB	chr19:41882149-41882560	A549	lung:	n/a	n/a
50	FOXA1	chr19:41882067-41882336	T-47D	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41880830..41883046-chr19:41887103..41889706,2	MCF-7	breast:
2	chr19:41882074..41885616-chr19:41888544..41893640,5	K562	blood:
3	chr19:41846876..41849699-chr19:41880679..41882557,2	K562	blood:
4	chr19:41869853..41871782-chr19:41881681..41884054,2	K562	blood:

No data

Variant related genes	Relation type
BCKDHA	TF binding region
ENSG00000255730	TF binding region
TMEM91	TF binding region
ENSG00000105329	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521311	chr19:41856886-41882712	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
2	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41871200-41884000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:41871400-41888400	Weak transcription	Dnd41	blood
4	chr19:41875400-41882800	Weak transcription	K562	blood
5	chr19:41875400-41883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:41880400-41894000	Weak transcription	HSMMtube	muscle
7	chr19:41881400-41883000	Flanking Active TSS	Placenta	Placenta
8	chr19:41881800-41883200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:41881800-41883400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:41882000-41882400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr19:41882000-41882400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:41882000-41882400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:41882000-41882400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:41882000-41882400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr19:41882000-41882400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:41882000-41882400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr19:41882000-41882400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:41882000-41882400	Flanking Active TSS	Liver	Liver
19	chr19:41882000-41882400	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr19:41882000-41882400	Flanking Active TSS	Colonic Mucosa	Colon
21	chr19:41882000-41882400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr19:41882000-41882400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:41882000-41882400	Flanking Active TSS	Fetal Brain Male	brain
24	chr19:41882000-41882400	Flanking Active TSS	Fetal Brain Female	brain
25	chr19:41882000-41882400	Flanking Active TSS	Fetal Heart	heart
26	chr19:41882000-41882400	Flanking Active TSS	Fetal Kidney	kidney
27	chr19:41882000-41882400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
28	chr19:41882000-41882400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:41882000-41882400	Flanking Active TSS	A549	lung
30	chr19:41882000-41882400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr19:41882000-41882400	Flanking Active TSS	NHDF-Ad	bronchial
32	chr19:41882000-41882400	Flanking Active TSS	NHLF	lung
33	chr19:41882000-41882600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:41882000-41882600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr19:41882000-41882600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:41882000-41882600	Active TSS	Esophagus	oesophagus
37	chr19:41882000-41882600	Flanking Active TSS	Fetal Lung	lung
38	chr19:41882000-41882600	Flanking Active TSS	HUVEC	blood vessel
39	chr19:41882000-41882800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr19:41882000-41882800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:41882000-41882800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:41882000-41882800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr19:41882000-41882800	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr19:41882000-41882800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr19:41882000-41882800	Active TSS	Fetal Intestine Small	intestine
46	chr19:41882000-41882800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr19:41882000-41882800	Active TSS	Right Atrium	heart
48	chr19:41882000-41882800	Active TSS	HepG2	liver
49	chr19:41882000-41883000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr19:41882000-41883000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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