Variant report

Variant	rs16844853
Chromosome Location	chr1:225600815-225600816
allele	C/T
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	NFIC	chr1:225600363-225600866	HepG2	liver:	n/a	n/a
2	FOXA2	chr1:225600434-225600823	HepG2	liver:	n/a	chr1:225600591-225600603
3	TCF7L2	chr1:225600465-225600846	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:225600749-225601052	K562	blood:	n/a	n/a
5	POLR2A	chr1:225592461-225603516	K562	blood:	n/a	n/a
6	EP300	chr1:225600510-225600838	HepG2	liver:	n/a	chr1:225600619-225600633
7	NR3C1	chr1:225600800-225601056	A549	lung:	n/a	chr1:225600932-225600945 chr1:225600868-225600875
8	POLR2A	chr1:225600601-225601054	K562	blood:	n/a	n/a
9	FOXA1	chr1:225600367-225600931	HepG2	liver:	n/a	chr1:225600591-225600603 chr1:225600481-225600496
10	ARID3A	chr1:225600387-225600892	HepG2	liver:	n/a	chr1:225600598-225600614
11	MYBL2	chr1:225600440-225600972	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:225600489-225601265	K562	blood:	n/a	n/a
13	SP1	chr1:225600458-225600899	HepG2	liver:	n/a	n/a
14	BHLHE40	chr1:225600745-225601045	HepG2	liver:	n/a	n/a
15	BHLHE40	chr1:225600569-225601176	HepG2	liver:	n/a	n/a
16	TEAD4	chr1:225600323-225601085	HepG2	liver:	n/a	n/a
17	FOXA1	chr1:225600321-225600851	HepG2	liver:	n/a	chr1:225600591-225600603 chr1:225600481-225600496
18	EP300	chr1:225600435-225600839	HepG2	liver:	n/a	chr1:225600619-225600633
19	FOXA1	chr1:225600366-225600819	HepG2	liver:	n/a	chr1:225600591-225600603 chr1:225600481-225600496
20	FOXA2	chr1:225600127-225601045	HepG2	liver:	n/a	chr1:225600591-225600603

Variant related genes	Relation type
LBR	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12083979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41267357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41268715	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs41304014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41314272	1.00[AFR][1000 genomes]
rs61738690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679318	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544179	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
2	chr1:225583400-225601600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:225583400-225601600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:225583400-225601800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:225583600-225602200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:225583800-225601600	Strong transcription	Primary B cells from cord blood	blood
7	chr1:225584000-225603800	Weak transcription	Psoas Muscle	Psoas
8	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:225584800-225609800	Strong transcription	Dnd41	blood
10	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:225585200-225609800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:225585800-225610000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:225585800-225610000	Strong transcription	K562	blood
18	chr1:225585800-225610400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:225586000-225601400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:225586000-225607000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:225587000-225601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:225587600-225607000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:225587600-225607800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:225587800-225610000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:225588200-225605400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:225588200-225608200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:225588200-225610200	Strong transcription	Osteobl	bone
28	chr1:225588400-225604200	Strong transcription	HUVEC	blood vessel
29	chr1:225588600-225608400	Strong transcription	Hela-S3	cervix
30	chr1:225588600-225609800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:225589000-225607400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:225589600-225601000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:225590200-225610000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:225590600-225607200	Strong transcription	Primary T cells from cord blood	blood
35	chr1:225590600-225607400	Strong transcription	Thymus	Thymus
36	chr1:225590600-225607800	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:225590600-225608400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:225590800-225608200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:225591000-225601400	Strong transcription	Lung	lung
40	chr1:225591000-225604000	Strong transcription	Fetal Stomach	stomach
41	chr1:225591800-225608200	Strong transcription	Brain Germinal Matrix	brain
42	chr1:225592800-225607400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:225593000-225602600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:225593000-225610800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:225593400-225602200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:225594600-225607200	Strong transcription	NHEK	skin
47	chr1:225595400-225610400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:225595600-225607600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:225595800-225608400	Strong transcription	Fetal Brain Female	brain
50	chr1:225596200-225607600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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