Variant report

Variant	rs551984921
Chromosome Location	chr1:57003528-57003529
allele	C/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	EP300	chr1:57003509-57003593	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:57003171-57004244	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr1:56998973-57004163	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RPL21P23	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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv945965	chr1:57003085-57005467	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56990000-57004000	Genic enhancers	Liver	Liver
3	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
4	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
5	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:56993800-57004200	Weak transcription	NH-A	brain
7	chr1:56994000-57004000	Weak transcription	HUVEC	blood vessel
8	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
9	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
10	chr1:56994200-57004400	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr1:56995000-57003600	Strong transcription	Osteobl	bone
12	chr1:56995200-57003800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:56995600-57004600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:56995800-57004000	Genic enhancers	HepG2	liver
15	chr1:56996600-57004000	Strong transcription	HSMM	muscle
16	chr1:56996600-57005200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:56997200-57004600	Genic enhancers	Placenta	Placenta
18	chr1:56997600-57004400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr1:56997800-57003600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:56998600-57003800	Strong transcription	Fetal Stomach	stomach
21	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
22	chr1:57000000-57003800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:57000000-57004200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:57000200-57005000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:57000200-57008200	Weak transcription	Fetal Kidney	kidney
26	chr1:57000400-57004000	Strong transcription	NHLF	lung
27	chr1:57000400-57011000	Weak transcription	Gastric	stomach
28	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:57000600-57003800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:57000600-57005400	Weak transcription	Colonic Mucosa	Colon
31	chr1:57000800-57004000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:57001000-57004000	Genic enhancers	Fetal Intestine Large	intestine
33	chr1:57001000-57004200	Enhancers	Pancreas	Pancrea
34	chr1:57001200-57018800	Weak transcription	A549	lung
35	chr1:57001400-57004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:57001800-57003600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
38	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:57002000-57004000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:57002000-57004000	Enhancers	Fetal Thymus	thymus
41	chr1:57002200-57004400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:57002200-57004400	Enhancers	Psoas Muscle	Psoas
43	chr1:57002400-57003600	Weak transcription	Brain Angular Gyrus	brain
44	chr1:57002400-57004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:57002400-57005200	Weak transcription	Aorta	Aorta
46	chr1:57002400-57008600	Enhancers	Brain Hippocampus Middle	brain
47	chr1:57002600-57003600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:57002600-57004600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:57002600-57005200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:57002600-57005200	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links