Variant report

Variant	rs3811719
Chromosome Location	chr3:150125370-150125371
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr3:150125358-150126928	K562	blood:	n/a	n/a
2	BHLHE40	chr3:150125326-150127114	GM12878	blood:	n/a	chr3:150126547-150126563
3	MAX	chr3:150125067-150129102	A549	lung:	n/a	chr3:150125747-150125757
4	MAZ	chr3:150125335-150127168	K562	blood:	n/a	n/a
5	POLR2A	chr3:150125006-150126595	SK-N-MC	brain:	n/a	n/a
6	RCOR1	chr3:150124635-150128185	K562	blood:	n/a	n/a
7	MXI1	chr3:150125032-150131571	SK-N-SH	brain:	n/a	chr3:150130450-150130459
8	POLR2A	chr3:150124962-150128050	U87	brain:	n/a	n/a
9	POLR2A	chr3:150125325-150127053	K562	blood:	n/a	n/a
10	POLR2A	chr3:150125100-150127439	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr3:150125311-150128440	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr3:150125094-150127185	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:150124821-150129086	SK-N-MC	brain:	n/a	n/a
14	JUN	chr3:150124199-150130937	K562	blood:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150126003-150126016 chr3:150125540-150125551 chr3:150125537-150125549 chr3:150130480-150130492 chr3:150127088-150127099
15	MAX	chr3:150125252-150128931	NB4	blood:	n/a	chr3:150125747-150125757
16	POLR2A	chr3:150125260-150128683	K562	blood:	n/a	n/a
17	STAT3	chr3:150125357-150125861	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr3:150124952-150126987	K562	blood:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150125540-150125551 chr3:150125537-150125549
19	REST	chr3:150125336-150128406	H1-neurons	neurons:	n/a	chr3:150126165-150126178 chr3:150126175-150126193 chr3:150126518-150126531 chr3:150126828-150126846
20	MYC	chr3:150125349-150126364	K562	blood:	n/a	chr3:150125747-150125757
21	POLR2A	chr3:150125311-150128930	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:150124997-150127275	SK-N-SH	brain:	n/a	n/a
23	SIN3AK20	chr3:150125117-150129299	MCF-7	breast:	n/a	n/a
24	RCOR1	chr3:150125235-150126714	K562	blood:	n/a	n/a
25	POLR2A	chr3:150125121-150129116	PBDE	blood:	n/a	n/a
26	POLR2A	chr3:150125201-150128178	GM12878	blood:	n/a	n/a
27	MAX	chr3:150125353-150127451	A549	lung:	n/a	chr3:150125747-150125757
28	TBP	chr3:150125297-150126936	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:150125153-150127042	U87	brain:	n/a	n/a
30	RUNX3	chr3:150125296-150127007	GM12878	blood:	n/a	n/a
31	TCF12	chr3:150125241-150128915	A549	lung:	n/a	chr3:150125660-150125667
32	POLR2A	chr3:150125362-150125400	HUVEC	blood vessel:	n/a	n/a
33	JUND	chr3:150124892-150128974	SK-N-SH	brain:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150125540-150125551 chr3:150125537-150125549 chr3:150127088-150127099
34	REST	chr3:150125332-150126981	A549	lung:	n/a	chr3:150126165-150126178 chr3:150126175-150126193 chr3:150126518-150126531 chr3:150126828-150126846
35	HEY1	chr3:150125354-150125859	K562	blood:	n/a	n/a
36	POLR2A	chr3:150125212-150127042	U87	brain:	n/a	n/a
37	POLR2A	chr3:150125145-150127662	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:150125317-150129290	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr3:150125361-150125548	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr3:150125037-150127419	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr3:150125121-150127184	K562	blood:	n/a	n/a
42	TEAD4	chr3:150125051-150127047	K562	blood:	n/a	n/a
43	MAX	chr3:150125339-150128402	GM12878	blood:	n/a	chr3:150125747-150125757
44	HCFC1	chr3:150125299-150127027	K562	blood:	n/a	n/a
45	POLR2A	chr3:150125206-150129913	K562	blood:	n/a	n/a
46	GATA3	chr3:150125312-150127113	A549	lung:	n/a	n/a
47	RAD21	chr3:150125292-150128221	IMR90	lung:	n/a	chr3:150126160-150126179
48	TBP	chr3:150125360-150127050	K562	blood:	n/a	n/a
49	POLR2A	chr3:150124952-150127237	HUVEC	blood vessel:	n/a	n/a
50	TAF1	chr3:150125348-150125808	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150125360-150125410	NHBE	bronchial:	n/a
2	chr3:150125360-150125410	HRCEpiC	kidney:	n/a
3	chr3:150125360-150125410	HEEpiC	esophagus:	n/a
4	chr3:150125360-150125410	SK-N-SH	brain:	n/a
5	chr3:150125360-150125410	HUVEC	blood vessel:	n/a
6	chr3:150125360-150125410	MCF10A-Er-Src	breast:	n/a
7	chr3:150125360-150125410	HCPEpiC	choroid plexus:	n/a
8	chr3:150125360-150125410	HAEpiC	amniotic membrane:	n/a
9	chr3:150125360-150125410	SAEC	small airway:	n/a
10	chr3:150125360-150125410	AoSMC	blood vessel:	n/a
11	chr3:150125360-150125410	HRPEpiC	eye:	n/a
12	chr3:150125360-150125410	IMR90	lung:	fetal
13	chr3:150125360-150125410	T-47D	breast:	n/a
14	chr3:150125360-150125410	NH-A	brain:	n/a
15	chr3:150125360-150125410	Caco-2	colon:	n/a
16	chr3:150125360-150125410	GM12891	blood:	n/a
17	chr3:150125360-150125410	HMEC	breast:	n/a
18	chr3:150125360-150125410	SKMC	muscle:	n/a
19	chr3:150125360-150125410	BJ	skin:	n/a
20	chr3:150125360-150125410	GM19239	blood:	n/a
21	chr3:150125360-150125410	AG09319	gingival:	n/a
22	chr3:150125360-150125410	CMK	blood:	n/a
23	chr3:150125360-150125410	HepG2	liver:	n/a
24	chr3:150125360-150125410	HCT-116	colon:	n/a
25	chr3:150125360-150125410	H1-hESC	embryonic stem cell:	embryo
26	chr3:150125360-150125410	AG04450	lung:	fetal
27	chr3:150125360-150125410	PrEC	prostate:	n/a
28	chr3:150125360-150125410	HCF	heart:	n/a
29	chr3:150125360-150125410	GM12878	blood:	n/a
30	chr3:150125360-150125410	AG04449	skin:	fetal
31	chr3:150125360-150125410	PANC-1	pancreas:	n/a
32	chr3:150125360-150125410	HEK293	kidney:	embryo
33	chr3:150125360-150125410	RPTEC	kidney:	n/a
34	chr3:150125360-150125410	MCF-7	breast:	n/a
35	chr3:150125360-150125410	PFSK-1	brain:	n/a
36	chr3:150125360-150125410	AG10803	skin:	n/a
37	chr3:150125360-150125410	ovcar-3	ovarian:	n/a
38	chr3:150125360-150125410	NHDF-neo	bronchial:	n/a
39	chr3:150125360-150125410	Hela-S3	cervix:	n/a
40	chr3:150125360-150125410	GM12892	blood:	n/a
41	chr3:150125360-150125410	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:150125360-150125410	HNPCEpiC	eye:	n/a
43	chr3:150125360-150125410	ECC-1	luminal epithelium:	n/a
44	chr3:150125360-150125410	LNCaP	prostate:	n/a
45	chr3:150125360-150125410	Hepatocyte	liver:	n/a
46	chr3:150125360-150125410	K562	blood:	n/a
47	chr3:150125360-150125410	A549	lung:	n/a
48	chr3:150125360-150125410	SK-N-SH_RA	brain:	n/a
49	chr3:150125360-150125410	HCM	heart:	n/a
50	chr3:150125360-150125410	NB4	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
2	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
3	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
4	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
5	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
6	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
7	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
8	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
9	chr19:55917718..55920668-chr3:150122792..150125732,2	K562	blood:
10	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
11	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
12	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
13	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
14	chr1:1617816..1618735-chr3:150124965..150125497,2	Hela-S3	cervix:
15	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
16	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
17	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSC22D2	TF binding region
TSC22D2	CpG island
ENSG00000108106	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000070087	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000243550	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000268175	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10513368	0.89[ASN][1000 genomes]
rs10513369	0.93[ASN][1000 genomes]
rs10513370	0.93[ASN][1000 genomes]
rs10513371	0.93[ASN][1000 genomes]
rs10513372	0.89[ASN][1000 genomes]
rs10513375	0.89[ASN][1000 genomes]
rs11713072	0.93[ASN][1000 genomes]
rs11928577	0.89[ASN][1000 genomes]
rs11928948	0.89[ASN][1000 genomes]
rs13066114	0.93[ASN][1000 genomes]
rs13067910	0.83[ASN][1000 genomes]
rs13068946	0.93[ASN][1000 genomes]
rs13073230	0.96[ASN][1000 genomes]
rs13076419	0.89[ASN][1000 genomes]
rs13317818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376027	0.89[ASN][1000 genomes]
rs17278131	0.89[ASN][1000 genomes]
rs28571974	0.89[ASN][1000 genomes]
rs28587291	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2868430	0.93[ASN][1000 genomes]
rs34106738	0.89[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.89[ASN][1000 genomes]
rs34503712	0.89[ASN][1000 genomes]
rs34647320	0.93[ASN][1000 genomes]
rs34983941	0.89[ASN][1000 genomes]
rs35234277	0.86[ASN][1000 genomes]
rs3749400	0.93[ASN][1000 genomes]
rs61734437	0.93[ASN][1000 genomes]
rs66816665	0.93[ASN][1000 genomes]
rs67073112	0.93[ASN][1000 genomes]
rs6791546	0.93[ASN][1000 genomes]
rs6799106	0.93[ASN][1000 genomes]
rs6799981	0.93[ASN][1000 genomes]
rs73165716	0.89[ASN][1000 genomes]
rs7614772	0.93[ASN][1000 genomes]
rs7618493	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620193	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621019	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623100	0.89[ASN][1000 genomes]
rs9810244	0.81[EUR][1000 genomes]
rs9827736	0.93[ASN][1000 genomes]
rs9844735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875752	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879140	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1818335	chr3:150122121-150128717	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv14316	chr3:150124574-150128485	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3811719	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150124600-150125400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:150124600-150126200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:150124600-150127000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr3:150124600-150127400	Active TSS	NHLF	lung
5	chr3:150124600-150130600	Active TSS	Aorta	Aorta
6	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
8	chr3:150124600-150133000	Active TSS	Right Atrium	heart
9	chr3:150124800-150125400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:150124800-150125400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:150124800-150125400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr3:150124800-150125400	Flanking Active TSS	Fetal Heart	heart
13	chr3:150124800-150125400	Flanking Active TSS	HMEC	breast
14	chr3:150124800-150125400	Flanking Active TSS	NHEK	skin
15	chr3:150124800-150125600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:150124800-150125800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:150124800-150126400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr3:150124800-150128600	Active TSS	HSMM	muscle
19	chr3:150124800-150128800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:150124800-150129200	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
22	chr3:150125000-150125400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:150125000-150125400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr3:150125000-150125400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr3:150125000-150125400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr3:150125000-150125400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr3:150125000-150125400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr3:150125000-150125400	Enhancers	Small Intestine	intestine
29	chr3:150125000-150125400	Flanking Active TSS	Thymus	Thymus
30	chr3:150125000-150125400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:150125000-150125600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr3:150125000-150125600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:150125000-150125600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr3:150125000-150125600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr3:150125000-150125600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:150125000-150125600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr3:150125000-150125600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:150125000-150125600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr3:150125000-150125600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:150125000-150125600	Flanking Active TSS	Hela-S3	cervix
41	chr3:150125000-150125600	Flanking Active TSS	NH-A	brain
42	chr3:150125000-150125800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr3:150125000-150125800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:150125000-150125800	Flanking Active TSS	Dnd41	blood
45	chr3:150125000-150126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:150125000-150127000	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr3:150125000-150127600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr3:150125000-150128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:150125000-150128200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:150125000-150128400	Active TSS	Right Ventricle	heart

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