Variant report

Variant	rs2453488
Chromosome Location	chr12:49255208-49255209
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	CREB1	chr12:49254756-49255261	K562	blood:	n/a	n/a
2	CEBPB	chr12:49254905-49255211	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:49254672-49255663	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:49253272-49258971	A549	lung:	n/a	n/a
5	POLR2A	chr12:49255142-49255542	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUN	chr12:49254724-49255243	K562	blood:	n/a	chr12:49255047-49255055 chr12:49255043-49255054
7	FOS	chr12:49254953-49255209	MCF10A-Er-Src	breast:	n/a	chr12:49255047-49255055 chr12:49255043-49255054
8	POLR2A	chr12:49255105-49255231	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49245571..49247224-chr12:49253107..49255933,2	K562	blood:
2	chr12:49211113..49212754-chr12:49254899..49256730,2	MCF-7	breast:
3	chr12:49253202..49256104-chr12:49256944..49260973,5	K562	blood:
4	chr12:49244593..49247064-chr12:49254906..49256419,2	MCF-7	breast:

Variant related genes	Relation type
RND1	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000174243	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17123349	0.92[ASN][1000 genomes]
rs34570300	0.92[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2453488	RHEBL1	cis	cerebellum	SCAN
rs2453488	FKBP11	cis	cerebellum	SCAN
rs2453488	AQP2	cis	cerebellum	SCAN
rs2453488	ARID2	cis	parietal	SCAN
rs2453488	TMEM106C	cis	cerebellum	SCAN
rs2453488	CACNB3	cis	parietal	SCAN
rs2453488	FKBP11	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49246600-49258600	Weak transcription	Small Intestine	intestine
2	chr12:49246800-49256400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49247200-49255400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:49247200-49255600	Weak transcription	Colonic Mucosa	Colon
5	chr12:49247200-49255800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:49247200-49255800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:49247200-49256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:49247200-49256600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:49247200-49257000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:49247200-49257800	Weak transcription	Stomach Mucosa	stomach
11	chr12:49247200-49258000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:49247200-49258600	Weak transcription	Esophagus	oesophagus
13	chr12:49247200-49258600	Weak transcription	Right Ventricle	heart
14	chr12:49247200-49258800	Weak transcription	Right Atrium	heart
15	chr12:49247200-49259000	Weak transcription	Ovary	ovary
16	chr12:49250000-49256200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:49250600-49255600	Strong transcription	Fetal Intestine Small	intestine
18	chr12:49251200-49256000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:49251200-49256000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:49251200-49256400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:49251200-49256600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:49251200-49256600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:49251600-49257800	Weak transcription	Spleen	Spleen
24	chr12:49251800-49257400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:49252000-49257400	Weak transcription	GM12878-XiMat	blood
26	chr12:49252200-49256200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:49252400-49257800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:49253400-49255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:49253400-49256200	Strong transcription	Fetal Stomach	stomach
30	chr12:49253600-49257000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:49253800-49258200	Weak transcription	HepG2	liver
32	chr12:49254000-49255400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:49254000-49255800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:49254200-49255400	Strong transcription	Fetal Intestine Large	intestine
35	chr12:49254400-49256000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:49254400-49256400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:49254600-49255400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:49254600-49255400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:49254600-49255400	Strong transcription	Adipose Nuclei	Adipose
40	chr12:49254600-49255400	Enhancers	NHEK	skin
41	chr12:49254600-49255600	Genic enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:49254600-49255800	Genic enhancers	Brain Angular Gyrus	brain
43	chr12:49254600-49256000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:49254600-49256000	Genic enhancers	Brain Anterior Caudate	brain
45	chr12:49254600-49256200	Enhancers	Fetal Brain Male	brain
46	chr12:49254600-49256600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:49254800-49255400	Genic enhancers	Gastric	stomach
48	chr12:49254800-49255600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:49254800-49255600	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:49254800-49255800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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