Variant report

Variant	rs553773721
Chromosome Location	chr19:40444042-40444043
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	FOSL2	chr19:40443666-40444524	A549	lung:	n/a	n/a
2	CEBPB	chr19:40443673-40444335	A549	lung:	n/a	n/a
3	CEBPB	chr19:40443720-40444220	A549	lung:	n/a	n/a
4	CEBPB	chr19:40443562-40444602	A549	lung:	n/a	n/a
5	TCF12	chr19:40440113-40444572	A549	lung:	n/a	chr19:40442444-40442454 chr19:40442130-40442140 chr19:40442317-40442326 chr19:40440845-40440855 chr19:40441092-40441102
6	SP1	chr19:40443658-40444454	A549	lung:	n/a	n/a
7	CEBPB	chr19:40443774-40444069	K562	blood:	n/a	n/a
8	REST	chr19:40443397-40444585	A549	lung:	n/a	n/a
9	FOXA2	chr19:40443332-40444411	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40440432..40442359-chr19:40443718..40445248,2	K562	blood:

Variant related genes	Relation type
FCGBP	TF binding region
ENSG00000090920	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
6	nsv978815	chr19:40443651-40449610	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40439800-40444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:40440800-40444600	Enhancers	Fetal Intestine Large	intestine
5	chr19:40440800-40447000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:40441200-40449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:40441800-40444200	Enhancers	Stomach Mucosa	stomach
8	chr19:40441800-40447200	Weak transcription	Esophagus	oesophagus
9	chr19:40442000-40446400	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:40442000-40450400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:40442200-40444400	Enhancers	HepG2	liver
12	chr19:40442200-40447000	Weak transcription	Gastric	stomach
13	chr19:40442400-40449000	Weak transcription	Pancreas	Pancrea
14	chr19:40442400-40450400	Weak transcription	Lung	lung
15	chr19:40442600-40447000	Weak transcription	Small Intestine	intestine
16	chr19:40443000-40446800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:40443000-40447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:40443400-40444400	Enhancers	Primary B cells from cord blood	blood
19	chr19:40443600-40444200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr19:40443600-40446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:40443600-40447000	Weak transcription	Colonic Mucosa	Colon
22	chr19:40443600-40447000	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:40443600-40447000	Weak transcription	Placenta	Placenta
24	chr19:40443600-40447000	Weak transcription	Fetal Thymus	thymus
25	chr19:40443800-40445400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:40443800-40445600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:40443800-40445600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:40443800-40445800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:40443800-40446000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:40443800-40446000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:40443800-40446200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:40443800-40446600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:40444000-40444200	Enhancers	A549	lung
34	chr19:40444000-40444600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr19:40444000-40445200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:40444000-40445600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:40444000-40446600	Weak transcription	Rectal Mucosa Donor 29	rectum

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