Variant report

Variant	rs7532953
Chromosome Location	chr1:214547938-214547939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10158201	0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[ASN][1000 genomes]
rs11120303	0.87[CHB][hapmap];0.85[CHD][hapmap]
rs11120305	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12078216	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs17022757	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1846251	0.87[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs3738425	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs6700380	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7532953	IRF6	cis	cerebellum	SCAN
rs7532953	KCTD3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214513600-214552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:214519000-214557800	Weak transcription	Dnd41	blood
3	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:214522800-214552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:214528600-214552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:214528600-214555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:214528800-214551800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:214529400-214561800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:214531600-214556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:214534000-214557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:214536200-214551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
15	chr1:214537800-214549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:214538000-214556200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:214538000-214556400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:214538000-214559400	Weak transcription	Small Intestine	intestine
19	chr1:214538200-214556600	Weak transcription	Pancreas	Pancrea
20	chr1:214538600-214550600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:214538800-214549400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:214538800-214556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:214539600-214561600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:214539800-214551000	Strong transcription	NHDF-Ad	bronchial
25	chr1:214540400-214548400	Strong transcription	NHEK	skin
26	chr1:214540400-214552000	Strong transcription	HUVEC	blood vessel
27	chr1:214540600-214549200	Strong transcription	HMEC	breast
28	chr1:214540600-214549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:214541200-214552200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:214541600-214566600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:214542000-214556200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:214542200-214551000	Strong transcription	HSMM	muscle
33	chr1:214542400-214549800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:214542400-214549800	Strong transcription	Placenta	Placenta
35	chr1:214543200-214548200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:214543200-214556400	Weak transcription	HepG2	liver
37	chr1:214543600-214561600	Weak transcription	Colonic Mucosa	Colon
38	chr1:214544000-214548200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:214544200-214556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:214544600-214548000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:214544800-214549000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:214545000-214549200	Weak transcription	Spleen	Spleen
43	chr1:214545000-214549800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:214545000-214550600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:214545000-214556600	Weak transcription	Gastric	stomach
46	chr1:214545000-214559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:214545200-214549200	Weak transcription	Aorta	Aorta
48	chr1:214545200-214549200	Weak transcription	HSMMtube	muscle
49	chr1:214545200-214551000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:214545200-214556600	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links