Variant report

Variant	rs12903784
Chromosome Location	chr15:40304407-40304408
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11629915	0.98[ASN][1000 genomes]
rs11635537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635600	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12442713	0.81[EUR][1000 genomes]
rs2279579	0.91[CEU][hapmap];0.92[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412463	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];1.00[ASN][1000 genomes]
rs2898973	0.82[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.98[ASN][1000 genomes]
rs3207297	0.95[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35697496	0.86[EUR][1000 genomes]
rs7173315	0.81[EUR][1000 genomes]
rs8034362	0.88[AMR][1000 genomes];0.88[EUR][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
rs12903784	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL
rs12903784	EIF2AK4	cis	lesional skin	skin_eQTL

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	chr15:40277800-40304800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:40277800-40305000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:40277800-40305000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:40277800-40305400	Strong transcription	Fetal Muscle Leg	muscle
7	chr15:40277800-40305600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:40278000-40305400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:40291600-40305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:40291800-40305200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:40291800-40305800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:40292000-40306600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:40292400-40305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:40292600-40306400	Strong transcription	Primary T cells from cord blood	blood
15	chr15:40292800-40306400	Strong transcription	Adipose Nuclei	Adipose
16	chr15:40293000-40306600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr15:40293000-40306800	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr15:40293200-40305400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:40293200-40306000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:40293200-40306200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr15:40293400-40305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:40294400-40305800	Strong transcription	Fetal Thymus	thymus
24	chr15:40294400-40306400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr15:40295000-40305400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:40295000-40306200	Strong transcription	NHEK	skin
27	chr15:40296000-40311400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:40296200-40306200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr15:40296200-40313000	Weak transcription	Psoas Muscle	Psoas
30	chr15:40296400-40306400	Weak transcription	Stomach Mucosa	stomach
31	chr15:40296400-40313200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
33	chr15:40298000-40305000	Strong transcription	Dnd41	blood
34	chr15:40298400-40306200	Strong transcription	Placenta	Placenta
35	chr15:40298800-40306200	Strong transcription	HepG2	liver
36	chr15:40298800-40306400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:40299000-40306600	Strong transcription	Fetal Lung	lung
38	chr15:40299000-40306600	Strong transcription	Left Ventricle	heart
39	chr15:40299000-40307000	Strong transcription	NHLF	lung
40	chr15:40299000-40308400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:40299200-40306200	Strong transcription	Fetal Intestine Large	intestine
42	chr15:40299400-40304800	Strong transcription	Aorta	Aorta
43	chr15:40299400-40305000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr15:40299400-40306600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr15:40299600-40304600	Strong transcription	Thymus	Thymus
46	chr15:40299600-40306000	Strong transcription	Fetal Stomach	stomach
47	chr15:40299600-40306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:40299600-40307000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:40300200-40305600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:40300200-40306400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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