Variant report

Variant	rs200440093
Chromosome Location	chr2:54894701-54894702
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	POLR2A	chr2:54892181-54896917	GM12878	blood:	n/a	n/a
2	MBD4	chr2:54893480-54895159	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:54889669-54901118	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:54892273-54895690	A549	lung:	n/a	n/a
5	POLR2A	chr2:54893839-54894716	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:54894505-54896415	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:54894204-54895612	K562	blood:	n/a	n/a
8	EP300	chr2:54893787-54894852	HepG2	liver:	n/a	chr2:54894121-54894137 chr2:54894009-54894025

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54881497..54884426-chr2:54893796..54895669,2	K562	blood:

Variant related genes	Relation type
ENSG00000238018	TF binding region

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:54846600-54898000	Strong transcription	Dnd41	blood
6	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
9	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
13	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:54865400-54898400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:54865800-54898200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:54866400-54897200	Strong transcription	Primary B cells from cord blood	blood
19	chr2:54867200-54897800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:54867200-54898200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:54868800-54898600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:54869000-54896400	Strong transcription	Colonic Mucosa	Colon
23	chr2:54869600-54898600	Strong transcription	Fetal Thymus	thymus
24	chr2:54869800-54895200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:54869800-54897600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:54878400-54897000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:54879600-54898400	Strong transcription	GM12878-XiMat	blood
28	chr2:54880200-54898400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:54880200-54898400	Strong transcription	Thymus	Thymus
30	chr2:54882400-54894800	Weak transcription	K562	blood
31	chr2:54883000-54895000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:54883000-54899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:54885000-54896400	Strong transcription	Hela-S3	cervix
34	chr2:54886800-54896600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:54889200-54898600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:54890000-54896400	Genic enhancers	Liver	Liver
37	chr2:54890800-54895600	Genic enhancers	Left Ventricle	heart
38	chr2:54890800-54898200	Genic enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:54891000-54899400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:54891200-54899800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:54891400-54895400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr2:54891400-54895600	Genic enhancers	Lung	lung
43	chr2:54891400-54896000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:54891400-54896600	Genic enhancers	Placenta	Placenta
45	chr2:54891600-54895000	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr2:54891600-54895800	Enhancers	Right Atrium	heart
47	chr2:54891600-54898000	Genic enhancers	Brain Hippocampus Middle	brain
48	chr2:54891800-54895000	Strong transcription	Gastric	stomach
49	chr2:54891800-54897800	Genic enhancers	NHLF	lung
50	chr2:54892000-54895000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links