Variant report

Variant	rs34298786
Chromosome Location	chr15:40269052-40269053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40179730..40180403-chr15:40268850..40269592,2	MCF-7	breast:
2	chr15:40262166..40265065-chr15:40268835..40271155,2	K562	blood:
3	chr15:40180130..40180632-chr15:40268658..40269469,2	MCF-7	breast:
4	chr15:40261012..40264755-chr15:40266617..40269067,3	MCF-7	breast:
5	chr15:40211915..40214784-chr15:40267072..40270080,3	MCF-7	breast:
6	chr15:40078363..40080929-chr15:40268662..40270401,2	MCF-7	breast:
7	chr15:40256702..40259221-chr15:40268261..40271249,2	K562	blood:

Variant related genes	Relation type
ENSG00000166073	Chromatin interaction
ENSG00000246863	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10518676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10851392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11631801	0.90[ASN][1000 genomes]
rs11632930	0.86[AFR][1000 genomes]
rs11633416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12324733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12438989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439335	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442713	0.87[EUR][1000 genomes]
rs12906976	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28617639	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs55957853	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56143280	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs580836	0.87[ASN][1000 genomes]
rs7173315	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72729488	0.99[ASN][1000 genomes]
rs8030025	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8030640	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8030687	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8035930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8042788	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9302104	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34298786	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
4	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr15:40257200-40272200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:40261000-40277800	Weak transcription	A549	lung
17	chr15:40262600-40293800	Weak transcription	Stomach Mucosa	stomach
18	chr15:40264800-40270400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:40265200-40270000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr15:40265400-40269800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:40265400-40269800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:40265600-40271400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:40266000-40269200	Strong transcription	Thymus	Thymus
24	chr15:40266400-40281800	Weak transcription	K562	blood
25	chr15:40266600-40269600	Enhancers	Fetal Heart	heart
26	chr15:40266600-40278000	Weak transcription	GM12878-XiMat	blood
27	chr15:40267000-40278000	Weak transcription	Hela-S3	cervix
28	chr15:40267200-40269600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:40267600-40269400	Strong transcription	Spleen	Spleen
30	chr15:40267800-40269600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:40267800-40270000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr15:40267800-40278400	Weak transcription	Primary B cells from cord blood	blood
33	chr15:40268200-40269600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr15:40268200-40269800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:40268400-40269200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:40268400-40269200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:40268400-40269200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:40268400-40269200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:40268400-40269200	Active TSS	Brain Angular Gyrus	brain
40	chr15:40268400-40269200	Active TSS	Brain Hippocampus Middle	brain
41	chr15:40268400-40269200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:40268400-40269200	Active TSS	Colon Smooth Muscle	Colon
43	chr15:40268400-40269200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
44	chr15:40268400-40269200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr15:40268400-40269200	Active TSS	Psoas Muscle	Psoas
46	chr15:40268400-40269200	Active TSS	Right Ventricle	heart
47	chr15:40268400-40269200	Active TSS	NHDF-Ad	bronchial
48	chr15:40268400-40269200	Transcr. at gene 5' and 3'	Osteobl	bone
49	chr15:40268400-40269400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:40268400-40269400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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