Variant report

Variant	rs11632930
Chromosome Location	chr15:40271457-40271458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40237266..40239005-chr15:40269380..40272206,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10518676	0.87[CEU][hapmap];0.86[AFR][1000 genomes]
rs10851392	0.84[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs11631801	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633416	0.83[ASW][hapmap];0.87[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs12324733	0.84[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs12438989	0.86[AFR][1000 genomes]
rs12439021	0.86[AFR][1000 genomes]
rs12439335	0.87[CEU][hapmap]
rs12441927	0.86[AFR][1000 genomes]
rs12442713	0.92[GIH][hapmap]
rs1656894	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16970134	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28617639	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2934194	0.95[CEU][hapmap];0.95[GIH][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34298786	0.86[AFR][1000 genomes]
rs552251	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55957853	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56143280	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72729488	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8030025	0.88[ASW][hapmap];0.87[CEU][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];0.88[MKK][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs8030640	0.83[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8030687	0.95[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8030980	0.83[CEU][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8034362	0.80[GIH][hapmap]
rs8035930	0.86[AFR][1000 genomes]
rs8042788	0.83[AFR][1000 genomes]
rs9302104	0.81[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[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	nsv974560	chr15:40271109-40272266	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11632930	EIF2AK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr15:40266400-40281800	Weak transcription	K562	blood
19	chr15:40266600-40278000	Weak transcription	GM12878-XiMat	blood
20	chr15:40267000-40278000	Weak transcription	Hela-S3	cervix
21	chr15:40267800-40278400	Weak transcription	Primary B cells from cord blood	blood
22	chr15:40269000-40272400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr15:40269000-40273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:40269000-40274600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:40269000-40277800	Weak transcription	Aorta	Aorta
26	chr15:40269000-40277800	Weak transcription	Gastric	stomach
27	chr15:40269000-40277800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:40269000-40278000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:40269000-40284800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:40269000-40293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:40269000-40293200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:40269200-40273200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:40269200-40274200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:40269200-40274600	Strong transcription	NHEK	skin
35	chr15:40269200-40275800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:40269200-40277800	Weak transcription	Ovary	ovary
37	chr15:40269200-40277800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:40269200-40277800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:40269200-40277800	Weak transcription	Thymus	Thymus
40	chr15:40269200-40278000	Weak transcription	Left Ventricle	heart
41	chr15:40269200-40278000	Weak transcription	Pancreas	Pancrea
42	chr15:40269200-40278000	Weak transcription	Right Ventricle	heart
43	chr15:40269200-40278200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:40269200-40282000	Weak transcription	Esophagus	oesophagus
45	chr15:40269200-40283000	Weak transcription	Psoas Muscle	Psoas
46	chr15:40269400-40272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:40269400-40272400	Weak transcription	Adipose Nuclei	Adipose
48	chr15:40269400-40277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:40269400-40277800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:40269400-40277800	Weak transcription	Spleen	Spleen

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