Variant report

Variant	rs8030687
Chromosome Location	chr15:40265588-40265589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40160808..40162741-chr15:40264652..40267274,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10518676	0.91[CEU][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10851392	0.90[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11631801	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632930	0.95[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11633416	0.90[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12324733	0.90[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12438989	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12439021	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12439335	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs12441927	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12906976	0.89[ASN][1000 genomes]
rs1656894	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16970134	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28617639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2934194	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34298786	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs480095	0.83[JPT][hapmap]
rs486816	0.83[JPT][hapmap]
rs489424	0.83[JPT][hapmap]
rs494614	0.83[JPT][hapmap]
rs518770	0.83[JPT][hapmap]
rs534757	0.83[JPT][hapmap]
rs552251	1.00[CEU][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55957853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56143280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs562159	0.83[JPT][hapmap]
rs577289	0.83[JPT][hapmap]
rs580836	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs72729488	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8030025	0.90[CEU][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8030640	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]
rs8030980	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8035930	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8042788	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9302104	0.85[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8030687	EIF2AK4	cis	lesional skin	skin_eQTL
rs8030687	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	chr15:40227200-40268400	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	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
7	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:40250800-40265800	Weak transcription	K562	blood
18	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:40254000-40268400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:40257200-40272200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:40257400-40268600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:40257800-40267800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:40258200-40268600	Weak transcription	Gastric	stomach
26	chr15:40260200-40268400	Weak transcription	Psoas Muscle	Psoas
27	chr15:40260200-40268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:40260200-40268600	Weak transcription	Pancreas	Pancrea
29	chr15:40260400-40265800	Weak transcription	Spleen	Spleen
30	chr15:40260400-40268200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:40260600-40265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:40260600-40266000	Weak transcription	Thymus	Thymus
33	chr15:40260800-40265600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:40260800-40268400	Weak transcription	Brain Angular Gyrus	brain
35	chr15:40260800-40268400	Weak transcription	Brain Germinal Matrix	brain
36	chr15:40260800-40268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:40261000-40265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:40261000-40265800	Weak transcription	Right Ventricle	heart
40	chr15:40261000-40268400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:40261000-40268400	Weak transcription	Brain Anterior Caudate	brain
42	chr15:40261000-40268400	Weak transcription	Colonic Mucosa	Colon
43	chr15:40261000-40268600	Weak transcription	Aorta	Aorta
44	chr15:40261000-40277800	Weak transcription	A549	lung
45	chr15:40261400-40265600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:40261400-40265600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr15:40261400-40265800	Weak transcription	Fetal Kidney	kidney
48	chr15:40261400-40268400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:40261400-40268400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:40261400-40268400	Weak transcription	Fetal Brain Male	brain

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