Variant report

Variant	rs12973382
Chromosome Location	chr19:40443783-40443784
allele	A/C
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	SPI1	chr19:40443547-40443985	HL-60	blood:	n/a	chr19:40443791-40443798 chr19:40443788-40443801
7	SP1	chr19:40443658-40444454	A549	lung:	n/a	n/a
8	CEBPB	chr19:40443774-40444069	K562	blood:	n/a	n/a
9	REST	chr19:40443397-40444585	A549	lung:	n/a	n/a
10	POLR2A	chr19:40443562-40444007	K562	blood:	n/a	n/a
11	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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs741144	1.00[CHB][hapmap];1.00[YRI][hapmap]

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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40438600-40443800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:40439800-40443800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:40439800-40443800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:40439800-40443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40439800-40444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40440000-40443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:40440000-40443800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:40440000-40444000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:40440000-40444000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:40440200-40443800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:40440400-40443800	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:40440600-40443800	Enhancers	Primary T cells from cord blood	blood
15	chr19:40440600-40443800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:40440600-40444000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr19:40440800-40443800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:40440800-40444000	Enhancers	Fetal Intestine Small	intestine
19	chr19:40440800-40444600	Enhancers	Fetal Intestine Large	intestine
20	chr19:40440800-40447000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:40441000-40443800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr19:40441000-40443800	Enhancers	GM12878-XiMat	blood
23	chr19:40441200-40449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:40441800-40444200	Enhancers	Stomach Mucosa	stomach
25	chr19:40441800-40447200	Weak transcription	Esophagus	oesophagus
26	chr19:40442000-40446400	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:40442000-40450400	Weak transcription	Brain Substantia Nigra	brain
28	chr19:40442200-40444400	Enhancers	HepG2	liver
29	chr19:40442200-40447000	Weak transcription	Gastric	stomach
30	chr19:40442400-40449000	Weak transcription	Pancreas	Pancrea
31	chr19:40442400-40450400	Weak transcription	Lung	lung
32	chr19:40442600-40444000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr19:40442600-40447000	Weak transcription	Small Intestine	intestine
34	chr19:40443000-40446800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:40443000-40447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:40443200-40444000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr19:40443400-40443800	Enhancers	A549	lung
38	chr19:40443400-40444400	Enhancers	Primary B cells from cord blood	blood
39	chr19:40443600-40444200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr19:40443600-40446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:40443600-40447000	Weak transcription	Colonic Mucosa	Colon
42	chr19:40443600-40447000	Weak transcription	Fetal Muscle Leg	muscle
43	chr19:40443600-40447000	Weak transcription	Placenta	Placenta
44	chr19:40443600-40447000	Weak transcription	Fetal Thymus	thymus

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