Variant report

Variant	rs73976164
Chromosome Location	chr2:172326900-172326901
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	MAFK	chr2:172326664-172327014	HepG2	liver:	n/a	chr2:172326826-172326841
2	MAFF	chr2:172326684-172327009	HepG2	liver:	n/a	chr2:172326824-172326842
3	MAFK	chr2:172326683-172326985	IMR90	lung:	n/a	chr2:172326826-172326841
4	MAFK	chr2:172326688-172327019	HepG2	liver:	n/a	chr2:172326826-172326841

Variant related genes	Relation type
DCAF17	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28453686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57136707	0.97[AFR][1000 genomes]
rs59019079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59195571	0.87[AFR][1000 genomes]
rs59827170	0.85[AFR][1000 genomes]
rs60601337	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6729749	0.97[AFR][1000 genomes]
rs6730160	0.97[AFR][1000 genomes]
rs73976160	0.97[AFR][1000 genomes]
rs73976165	0.95[AFR][1000 genomes]
rs73976168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976170	0.85[AFR][1000 genomes]

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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
4	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172298600-172341400	Weak transcription	NHLF	lung
6	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:172304800-172330000	Weak transcription	NH-A	brain
8	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
11	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
12	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
13	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:172315000-172337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:172315400-172329600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:172322800-172337800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:172323800-172327800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:172324200-172327800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:172324400-172327600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:172324400-172327800	Strong transcription	K562	blood
21	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:172324600-172338200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:172324600-172340000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:172324800-172327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:172324800-172327200	Strong transcription	HSMM	muscle
26	chr2:172324800-172327400	Strong transcription	HepG2	liver
27	chr2:172324800-172327600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:172324800-172327600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:172324800-172327800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:172324800-172328000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:172324800-172334800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:172324800-172334800	Strong transcription	Dnd41	blood
33	chr2:172324800-172337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:172324800-172340400	Strong transcription	Primary T cells from cord blood	blood
35	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:172325000-172327200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:172325000-172327400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:172325000-172327600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:172325000-172327600	Strong transcription	Brain Hippocampus Middle	brain
40	chr2:172325000-172328000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:172325000-172333200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:172325000-172340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:172325200-172327200	Strong transcription	Brain Angular Gyrus	brain
44	chr2:172325200-172327200	Strong transcription	Pancreas	Pancrea
45	chr2:172325200-172327400	Strong transcription	Aorta	Aorta
46	chr2:172325200-172327600	Strong transcription	Adipose Nuclei	Adipose
47	chr2:172325200-172327800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:172325200-172328400	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:172325200-172328800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:172325200-172329800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links