Variant report

Variant	rs72731415
Chromosome Location	chr15:40331699-40331700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40331027-40331840	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr15:40330994-40331868	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr15:40331196-40331744	K562	blood:	n/a	n/a
4	MAX	chr15:40330901-40331717	A549	lung:	n/a	chr15:40331461-40331471
5	TBL1XR1	chr15:40331052-40331847	GM12878	blood:	n/a	n/a
6	MTA3	chr15:40330815-40331994	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:40330490-40331825	PFSK-1	brain:	n/a	n/a
8	CHD1	chr15:40330918-40331807	GM12878	blood:	n/a	chr15:40331469-40331479
9	POLR2A	chr15:40330925-40331763	GM19193	blood:	n/a	n/a
10	TBP	chr15:40331142-40331787	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:40331057-40331933	GM18505	blood:	n/a	n/a
12	POLR2A	chr15:40331037-40331893	K562	blood:	n/a	n/a
13	SIN3AK20	chr15:40330713-40331902	MCF-7	breast:	n/a	n/a
14	POLR2A	chr15:40331038-40331766	HCT-116	colon:	n/a	n/a
15	TAF1	chr15:40331042-40331724	PFSK-1	brain:	n/a	n/a
16	MAX	chr15:40330936-40331843	HepG2	liver:	n/a	chr15:40331461-40331471
17	GABPA	chr15:40330707-40331988	SK-N-SH	brain:	n/a	chr15:40331471-40331480
18	MYC	chr15:40331175-40331903	K562	blood:	n/a	chr15:40331461-40331471
19	RUNX3	chr15:40331108-40331801	GM12878	blood:	n/a	n/a
20	MYBL2	chr15:40331074-40331793	HepG2	liver:	n/a	n/a
21	POLR2A	chr15:40331002-40331763	ECC-1	luminal epithelium:	n/a	n/a
22	GABPA	chr15:40331058-40331723	K562	blood:	n/a	chr15:40331471-40331480
23	SIN3AK20	chr15:40331036-40331734	SK-N-SH	brain:	n/a	n/a
24	CEBPD	chr15:40331136-40331721	HepG2	liver:	n/a	n/a
25	FOS	chr15:40331282-40331705	MCF10A-Er-Src	breast:	n/a	chr15:40331472-40331481
26	NR2F2	chr15:40331271-40331827	MCF-7	breast:	n/a	n/a
27	RCOR1	chr15:40330958-40331778	GM12878	blood:	n/a	n/a
28	MAZ	chr15:40330539-40331790	K562	blood:	n/a	chr15:40331461-40331471
29	POLR2A	chr15:40330909-40331836	MCF-7	breast:	n/a	n/a
30	PML	chr15:40331137-40331788	GM12878	blood:	n/a	n/a
31	YY1	chr15:40331135-40331704	GM12878	blood:	n/a	chr15:40331453-40331467
32	TAF1	chr15:40331065-40331810	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:40330933-40331850	HL-60	blood:	n/a	n/a
34	POLR2A	chr15:40331107-40331780	HEK293	kidney:	n/a	n/a
35	POLR2A	chr15:40331028-40331828	GM12891	blood:	n/a	n/a
36	ELK1	chr15:40331259-40331709	Hela-S3	cervix:	n/a	chr15:40331367-40331376 chr15:40331367-40331376
37	ELK4	chr15:40331045-40331710	Hela-S3	cervix:	n/a	n/a
38	PML	chr15:40331057-40331866	K562	blood:	n/a	n/a
39	TCF12	chr15:40330972-40331849	A549	lung:	n/a	n/a
40	POLR2A	chr15:40331046-40331806	GM12892	blood:	n/a	n/a
41	POLR2A	chr15:40330079-40331716	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr15:40330955-40331825	NB4	blood:	n/a	chr15:40331461-40331471
43	POLR2A	chr15:40330951-40331820	HL-60	blood:	n/a	n/a
44	POLR2A	chr15:40330970-40331754	GM15510	blood:	n/a	n/a
45	GABPA	chr15:40330872-40331859	MCF-7	breast:	n/a	chr15:40331471-40331480
46	POLR2A	chr15:40330838-40331904	PFSK-1	brain:	n/a	n/a
47	TAF1	chr15:40330439-40331765	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr15:40330399-40331753	Hela-S3	cervix:	n/a	n/a
49	MYC	chr15:40331282-40331826	MCF10A-Er-Src	breast:	n/a	chr15:40331461-40331471
50	RUNX3	chr15:40330922-40331778	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40331646..40335428-chr15:40336590..40339827,4	K562	blood:
2	chr15:40329348..40332922-chr15:40394377..40398986,5	MCF-7	breast:
3	chr15:40330945..40332578-chr15:40397344..40399517,2	K562	blood:
4	chr15:40320931..40323149-chr15:40329689..40332182,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-2	chr15:40331512-40331791	NONHSAT041794

Variant related genes	Relation type
SRP14	TF binding region
ENSG00000104081	Chromatin interaction
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1010879	1.00[ASN][1000 genomes]
rs11631442	1.00[ASN][1000 genomes]
rs16924528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17722502	1.00[ASN][1000 genomes]
rs17722526	1.00[ASN][1000 genomes]
rs2412478	1.00[ASN][1000 genomes]
rs28444847	1.00[ASN][1000 genomes]
rs28515996	1.00[ASN][1000 genomes]
rs28736699	1.00[ASN][1000 genomes]
rs28826672	1.00[ASN][1000 genomes]
rs35781999	1.00[ASN][1000 genomes]
rs3923235	1.00[ASN][1000 genomes]
rs4497657	1.00[ASN][1000 genomes]
rs4924410	0.83[ASN][1000 genomes]
rs4924413	1.00[ASN][1000 genomes]
rs4924417	1.00[ASN][1000 genomes]
rs62004158	1.00[ASN][1000 genomes]
rs71132133	1.00[ASN][1000 genomes]
rs7183977	1.00[ASN][1000 genomes]
rs7497289	1.00[ASN][1000 genomes]
rs749748	1.00[ASN][1000 genomes]
rs8026641	0.83[ASN][1000 genomes]
rs937213	1.00[ASN][1000 genomes]
rs9919974	1.00[ASN][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs72731415	EIF2AK4	cis	Adipose Subcutaneous	GTEx
rs72731415	EIF2AK4	cis	lung	GTEx
rs72731415	EIF2AK4	cis	Esophagus Muscularis	GTEx
rs72731415	EIF2AK4	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40330000-40332000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:40330000-40332000	Active TSS	Ovary	ovary
3	chr15:40330000-40332200	Active TSS	Left Ventricle	heart
4	chr15:40330000-40332400	Active TSS	Right Atrium	heart
5	chr15:40330200-40331800	Active TSS	Small Intestine	intestine
6	chr15:40330200-40332000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr15:40330200-40332000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:40330200-40332000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:40330200-40332000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr15:40330200-40332000	Active TSS	Gastric	stomach
11	chr15:40330200-40332200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:40330200-40332200	Active TSS	NHDF-Ad	bronchial
13	chr15:40330200-40332200	Active TSS	NHLF	lung
14	chr15:40330200-40332400	Active TSS	Colonic Mucosa	Colon
15	chr15:40330400-40331800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40330400-40331800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:40330400-40331800	Active TSS	Aorta	Aorta
18	chr15:40330400-40331800	Active TSS	Brain Hippocampus Middle	brain
19	chr15:40330400-40331800	Active TSS	Fetal Brain Female	brain
20	chr15:40330400-40331800	Active TSS	Fetal Muscle Trunk	muscle
21	chr15:40330400-40331800	Active TSS	Placenta Amnion	Placenta Amnion
22	chr15:40330400-40331800	Bivalent/Poised TSS	HepG2	liver
23	chr15:40330400-40332000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:40330400-40332000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:40330400-40332000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:40330400-40332000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:40330400-40332000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr15:40330400-40332000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:40330400-40332000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:40330400-40332000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:40330400-40332000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:40330400-40332000	Active TSS	Esophagus	oesophagus
33	chr15:40330400-40332000	Active TSS	Fetal Intestine Small	intestine
34	chr15:40330400-40332000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:40330400-40332000	Active TSS	Fetal Stomach	stomach
36	chr15:40330400-40332000	Active TSS	Lung	lung
37	chr15:40330400-40332000	Active TSS	Right Ventricle	heart
38	chr15:40330400-40332000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr15:40330400-40332200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:40330400-40332200	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr15:40330400-40332200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr15:40330400-40332200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:40330400-40332200	Active TSS	Fetal Intestine Large	intestine
44	chr15:40330400-40332400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:40330400-40332400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:40330400-40332400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:40330400-40332400	Active TSS	Psoas Muscle	Psoas
48	chr15:40330400-40332400	Active TSS	GM12878-XiMat	blood
49	chr15:40330400-40332600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:40330400-40332600	Active TSS	A549	lung

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