Variant report

Variant	rs4923847
Chromosome Location	chr15:40269501-40269502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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	chr15:40211915..40214784-chr15:40267072..40270080,3	MCF-7	breast:
4	chr15:40078363..40080929-chr15:40268662..40270401,2	MCF-7	breast:
5	chr15:40256702..40259221-chr15:40268261..40271249,2	K562	blood:
6	chr15:40237266..40239005-chr15:40269380..40272206,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BUB1B-6	chr15:40269180-40270493	NONHSAT041783

No data

Variant related genes	Relation type
ENSG00000246863	Chromatin interaction
ENSG00000166073	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12708400	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12900686	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1689606	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412453	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28541444	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28696728	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs564074	0.94[AFR][1000 genomes];0.95[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
rs4923847	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr15:40266400-40281800	Weak transcription	K562	blood
24	chr15:40266600-40269600	Enhancers	Fetal Heart	heart
25	chr15:40266600-40278000	Weak transcription	GM12878-XiMat	blood
26	chr15:40267000-40278000	Weak transcription	Hela-S3	cervix
27	chr15:40267200-40269600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:40267800-40269600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr15:40267800-40270000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr15:40267800-40278400	Weak transcription	Primary B cells from cord blood	blood
31	chr15:40268200-40269600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:40268200-40269800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:40268400-40269600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:40268400-40269600	Active TSS	Brain Anterior Caudate	brain
35	chr15:40268400-40269800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:40268600-40269600	Active TSS	Fetal Brain Female	brain
37	chr15:40268600-40269600	Active TSS	Fetal Lung	lung
38	chr15:40268600-40269600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:40268600-40270000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:40268800-40269600	Enhancers	Fetal Brain Male	brain
41	chr15:40268800-40269800	Weak transcription	Dnd41	blood
42	chr15:40269000-40269600	Genic enhancers	HepG2	liver
43	chr15:40269000-40269800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:40269000-40269800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr15:40269000-40270200	Strong transcription	Fetal Thymus	thymus
46	chr15:40269000-40271200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:40269000-40271400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:40269000-40272400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr15:40269000-40273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:40269000-40274600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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