Variant report

Variant	rs17489259
Chromosome Location	chr2:98392302-98392303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98382337..98383997-chr2:98389933..98392351,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10191101	0.88[MEX][hapmap]
rs10210520	0.83[AMR][1000 genomes]
rs11683207	1.00[CHD][hapmap]
rs12712120	0.83[AMR][1000 genomes]
rs17695937	1.00[GIH][hapmap]
rs2121271	0.83[AMR][1000 genomes]
rs34250439	0.86[AMR][1000 genomes]
rs34414288	0.83[AMR][1000 genomes]
rs34516173	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34635139	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35263587	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35358137	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35760941	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6543088	0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs6543111	0.83[AMR][1000 genomes]
rs6728312	0.83[AMR][1000 genomes]
rs6760008	0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs6875	0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs7425883	1.00[GIH][hapmap]
rs7570009	0.83[AMR][1000 genomes]
rs7593290	0.83[AMR][1000 genomes]
rs905484	1.00[CEU][hapmap]

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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17489259	ACTR1B	cis	cerebellum	SCAN
rs17489259	FAHD2B	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:98370200-98392600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:98370600-98392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
10	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
11	chr2:98377200-98394400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:98380800-98393800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:98381400-98397600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:98382800-98398600	Weak transcription	Small Intestine	intestine
18	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
21	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:98383400-98405600	Weak transcription	A549	lung
23	chr2:98384000-98398800	Weak transcription	Stomach Mucosa	stomach
24	chr2:98385400-98392600	Strong transcription	Fetal Lung	lung
25	chr2:98385400-98399200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:98385800-98392400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:98385800-98398800	Strong transcription	Fetal Stomach	stomach
28	chr2:98386000-98392400	Strong transcription	Placenta	Placenta
29	chr2:98386000-98392400	Strong transcription	HMEC	breast
30	chr2:98386000-98392600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:98386000-98398800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:98386200-98398000	Strong transcription	Fetal Intestine Large	intestine
33	chr2:98386200-98398800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:98386400-98395600	Weak transcription	Right Atrium	heart
35	chr2:98386600-98398200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:98386800-98393800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:98386800-98395600	Weak transcription	Fetal Heart	heart
38	chr2:98387200-98392400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:98387200-98393600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:98387400-98392400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr2:98387400-98393800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:98387400-98394200	Strong transcription	Left Ventricle	heart
43	chr2:98387400-98394400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:98387600-98392400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:98387600-98392600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:98387800-98392400	Strong transcription	Colonic Mucosa	Colon
47	chr2:98387800-98392400	Strong transcription	HepG2	liver
48	chr2:98387800-98392400	Strong transcription	Osteobl	bone
49	chr2:98387800-98393600	Strong transcription	Spleen	Spleen
50	chr2:98387800-98408000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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