Variant report

Variant	rs10851392
Chromosome Location	chr15:40262559-40262560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40262166..40265065-chr15:40268835..40271155,2	K562	blood:
2	chr15:40261012..40264755-chr15:40266617..40269067,3	MCF-7	breast:
3	chr15:40226656..40228180-chr15:40261724..40263385,2	K562	blood:
4	chr15:40251187..40253303-chr15:40260460..40262818,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10518676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11631801	0.89[ASN][1000 genomes]
rs11632930	0.84[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs11633416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12439021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12439335	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];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];0.95[ASN][1000 genomes]
rs12442713	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs12906976	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28617639	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2934194	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs34298786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs480095	0.82[JPT][hapmap]
rs486816	0.82[JPT][hapmap]
rs489424	0.82[JPT][hapmap]
rs494614	0.82[JPT][hapmap]
rs518770	0.82[JPT][hapmap]
rs534757	0.82[JPT][hapmap]
rs552251	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs55957853	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56143280	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs562159	0.82[JPT][hapmap]
rs577289	0.82[JPT][hapmap]
rs580836	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7173315	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72729488	1.00[ASN][1000 genomes]
rs8030025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8030640	0.90[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8030687	0.90[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8035930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8042788	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9302104	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10851392	EIF2AK4	cis	normal skin	skin_eQTL
rs10851392	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL
rs10851392	EIF2AK4	cis	uninvolved skin	skin_eQTL
rs10851392	EIF2AK4	cis	lesional skin	skin_eQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
2	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:40232000-40262600	Strong transcription	Liver	Liver
8	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
10	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:40241400-40262800	Strong transcription	Fetal Intestine Large	intestine
18	chr15:40243200-40262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:40248800-40264400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr15:40250000-40263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:40250800-40265800	Weak transcription	K562	blood
25	chr15:40252800-40262800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr15:40253800-40262600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:40254000-40268400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:40254200-40262600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:40254600-40262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:40256400-40263400	Strong transcription	Primary T cells from cord blood	blood
34	chr15:40257000-40263800	Strong transcription	Adipose Nuclei	Adipose
35	chr15:40257200-40264000	Strong transcription	Fetal Lung	lung
36	chr15:40257200-40272200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:40257400-40268600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:40257800-40267800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:40258200-40268600	Weak transcription	Gastric	stomach
40	chr15:40259200-40262600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr15:40260000-40265200	Weak transcription	Lung	lung
42	chr15:40260200-40265400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:40260200-40265400	Weak transcription	Ovary	ovary
44	chr15:40260200-40268400	Weak transcription	Psoas Muscle	Psoas
45	chr15:40260200-40268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:40260200-40268600	Weak transcription	Pancreas	Pancrea
47	chr15:40260400-40265000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:40260400-40265800	Weak transcription	Spleen	Spleen
49	chr15:40260400-40268200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:40260600-40265000	Weak transcription	HSMMtube	muscle

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