Variant report

Variant	rs2291626
Chromosome Location	chr15:40290706-40290707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40290539..40292857-chr15:40295870..40297927,2	MCF-7	breast:
2	chr15:40289928..40291569-chr15:40329736..40331305,2	K562	blood:
3	chr15:40283947..40287472-chr15:40288447..40291993,3	K562	blood:

Variant related genes	Relation type
ENSG00000140319	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11629915	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11632930	0.80[GIH][hapmap];0.82[TSI][hapmap]
rs12442713	0.87[GIH][hapmap]
rs12591842	0.82[GIH][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap]
rs12903784	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs16970134	0.88[EUR][1000 genomes]
rs2279579	0.82[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs2412463	0.82[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2898973	0.82[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3207297	0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs7175913	0.85[EUR][1000 genomes]
rs8030640	0.82[TSI][hapmap]
rs8030980	0.86[CHB][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs8034362	0.81[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2291626	EIF2AK4	cis	cerebellum	SCAN

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	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
3	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:40262600-40293800	Weak transcription	Stomach Mucosa	stomach
8	chr15:40269000-40293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40269000-40293200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:40269600-40295600	Weak transcription	Fetal Heart	heart
11	chr15:40276400-40295600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:40277600-40294600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:40277600-40303600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:40277600-40303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:40277600-40304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:40277800-40290800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr15:40277800-40290800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:40277800-40290800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:40277800-40291000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:40277800-40291200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:40277800-40291200	Strong transcription	Adipose Nuclei	Adipose
22	chr15:40277800-40291200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:40277800-40291400	Strong transcription	Primary T cells from cord blood	blood
24	chr15:40277800-40291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:40277800-40291400	Strong transcription	Fetal Intestine Large	intestine
26	chr15:40277800-40291400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:40277800-40291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:40277800-40293800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr15:40277800-40294400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:40277800-40298200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:40277800-40303800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:40277800-40304400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:40277800-40304800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:40277800-40305000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:40277800-40305000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:40277800-40305400	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:40277800-40305600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr15:40278000-40291400	Strong transcription	Left Ventricle	heart
39	chr15:40278000-40294000	Strong transcription	Liver	Liver
40	chr15:40278000-40305400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:40278200-40291400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:40278800-40294600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:40279800-40294400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:40280800-40291400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr15:40282800-40299000	Weak transcription	K562	blood
46	chr15:40284200-40294800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:40284400-40294600	Weak transcription	Hela-S3	cervix
48	chr15:40285200-40295400	Weak transcription	Psoas Muscle	Psoas
49	chr15:40285600-40295200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:40285800-40293000	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links