Variant report

Variant	rs2412464
Chromosome Location	chr15:40303842-40303843
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	chr15:40298344..40301416-chr15:40301648..40304008,4	K562	blood:
2	chr15:40302289..40304132-chr15:40306994..40309622,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11070245	0.85[CEU][hapmap]
rs12592831	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279581	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2412459	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3736290	0.81[CEU][hapmap]
rs3816900	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492925	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7175913	0.80[ASN][1000 genomes]
rs8028580	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2412464	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL
rs2412464	EIF2AK4	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:40277600-40304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:40277800-40304400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr15:40277800-40304800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:40277800-40305000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:40277800-40305000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:40277800-40305400	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:40277800-40305600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:40278000-40305400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:40291600-40305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:40291800-40305200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:40291800-40305800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:40292000-40306600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:40292400-40305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40292600-40306400	Strong transcription	Primary T cells from cord blood	blood
17	chr15:40292800-40306400	Strong transcription	Adipose Nuclei	Adipose
18	chr15:40293000-40306600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:40293000-40306800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:40293200-40305400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:40293200-40306000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:40293200-40306200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:40293400-40305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:40294400-40305800	Strong transcription	Fetal Thymus	thymus
26	chr15:40294400-40306400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr15:40294800-40304000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:40294800-40304200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:40295000-40305400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:40295000-40306200	Strong transcription	NHEK	skin
31	chr15:40296000-40311400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:40296200-40306200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr15:40296200-40313000	Weak transcription	Psoas Muscle	Psoas
34	chr15:40296400-40306400	Weak transcription	Stomach Mucosa	stomach
35	chr15:40296400-40313200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
37	chr15:40297600-40304200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:40298000-40305000	Strong transcription	Dnd41	blood
39	chr15:40298400-40306200	Strong transcription	Placenta	Placenta
40	chr15:40298800-40306200	Strong transcription	HepG2	liver
41	chr15:40298800-40306400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:40299000-40304400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:40299000-40306600	Strong transcription	Fetal Lung	lung
44	chr15:40299000-40306600	Strong transcription	Left Ventricle	heart
45	chr15:40299000-40307000	Strong transcription	NHLF	lung
46	chr15:40299000-40308400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:40299200-40306200	Strong transcription	Fetal Intestine Large	intestine
48	chr15:40299400-40304800	Strong transcription	Aorta	Aorta
49	chr15:40299400-40305000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr15:40299400-40306600	Strong transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links