Variant report

Variant	rs72695744
Chromosome Location	chr4:159103926-159103927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr4:159103762-159104240	SK-N-SH	brain:	n/a	n/a
2	MAX	chr4:159103849-159104182	K562	blood:	n/a	n/a
3	MYC	chr4:159103924-159104095	K562	blood:	n/a	n/a
4	MAX	chr4:159103833-159104208	K562	blood:	n/a	n/a
5	POLR2A	chr4:159103805-159104258	K562	blood:	n/a	n/a
6	POLR2A	chr4:159103854-159104145	K562	blood:	n/a	n/a
7	CBX3	chr4:159103756-159104254	K562	blood:	n/a	n/a
8	ELF1	chr4:159103857-159104250	K562	blood:	n/a	chr4:159104027-159104040
9	RCOR1	chr4:159103851-159104112	K562	blood:	n/a	n/a
10	ZNF384	chr4:159103773-159104129	K562	blood:	n/a	n/a
11	BHLHE40	chr4:159103847-159104239	K562	blood:	n/a	n/a
12	GABPA	chr4:159103823-159104215	K562	blood:	n/a	n/a
13	TBL1XR1	chr4:159103785-159104152	K562	blood:	n/a	n/a
14	MAX	chr4:159103901-159104080	K562	blood:	n/a	n/a
15	CREB1	chr4:159103678-159104365	K562	blood:	n/a	n/a
16	MAZ	chr4:159103903-159104104	K562	blood:	n/a	n/a
17	PML	chr4:159103700-159104251	K562	blood:	n/a	n/a
18	POLR2A	chr4:159103892-159104204	K562	blood:	n/a	n/a
19	ELF1	chr4:159103892-159104210	K562	blood:	n/a	chr4:159104027-159104040
20	FOXP2	chr4:159103882-159104170	PFSK-1	brain:	n/a	n/a
21	HCFC1	chr4:159103870-159104190	K562	blood:	n/a	n/a
22	HEY1	chr4:159103800-159104259	K562	blood:	n/a	n/a
23	E2F6	chr4:159103889-159104110	K562	blood:	n/a	n/a
24	ATF3	chr4:159103840-159104068	K562	blood:	n/a	n/a
25	GABPA	chr4:159103823-159104299	K562	blood:	n/a	n/a
26	EP300	chr4:159103860-159104092	K562	blood:	n/a	chr4:159103883-159103897 chr4:159103881-159103895 chr4:159103880-159103894 chr4:159103882-159103896
27	GABPA	chr4:159103741-159104288	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr4:159103893-159104188	K562	blood:	n/a	n/a
29	MYC	chr4:159103838-159104203	K562	blood:	n/a	n/a
30	JUND	chr4:159103790-159104165	K562	blood:	n/a	n/a
31	CREB1	chr4:159103843-159104237	K562	blood:	n/a	n/a
32	POLR2A	chr4:159103669-159104398	K562	blood:	n/a	n/a
33	ATF1	chr4:159103795-159104164	K562	blood:	n/a	n/a
34	MYC	chr4:159103815-159104199	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:159103922..159105875-chr4:159131072..159133158,2	K562	blood:

No data

Variant related genes	Relation type
NUDT19P5	TF binding region
ENSG00000164124	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10517685	0.90[EUR][1000 genomes]
rs10517686	0.90[EUR][1000 genomes]
rs11100152	1.00[EUR][1000 genomes]
rs11933839	1.00[EUR][1000 genomes]
rs11939690	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036992	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17036995	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17037201	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17037232	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17212066	0.90[EUR][1000 genomes]
rs17212714	1.00[EUR][1000 genomes]
rs17271385	0.90[EUR][1000 genomes]
rs17279270	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2881374	0.90[EUR][1000 genomes]
rs6820988	0.85[EUR][1000 genomes]
rs6834839	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6837943	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72691615	0.90[EUR][1000 genomes]
rs72691620	0.90[EUR][1000 genomes]
rs72691622	0.90[EUR][1000 genomes]
rs72691626	0.90[EUR][1000 genomes]
rs72691627	0.90[EUR][1000 genomes]
rs72691629	0.90[EUR][1000 genomes]
rs72691631	0.90[EUR][1000 genomes]
rs72691632	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691633	0.90[EUR][1000 genomes]
rs72691634	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691636	0.90[EUR][1000 genomes]
rs72691649	1.00[EUR][1000 genomes]
rs72695726	1.00[EUR][1000 genomes]
rs72695736	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695745	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695747	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695748	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695749	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695750	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695751	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695753	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678302	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72695744	TMEM144	cis	Esophagus Muscularis	GTEx
rs72695744	RP11-597D13.9	cis	Skin Sun Exposed Lower leg	GTEx
rs72695744	RP11-597D13.9	cis	Esophagus Muscularis	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159092600-159104000	Weak transcription	Lung	lung
2	chr4:159095800-159113800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:159096400-159107400	Weak transcription	HSMMtube	muscle
4	chr4:159096400-159113600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:159096400-159131200	Weak transcription	Right Ventricle	heart
6	chr4:159096400-159131200	Weak transcription	HepG2	liver
7	chr4:159097800-159122400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:159098400-159110200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:159098400-159122800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:159098800-159122800	Weak transcription	Fetal Intestine Large	intestine
11	chr4:159099000-159104000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:159099600-159112800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:159099800-159107400	Weak transcription	Adipose Nuclei	Adipose
14	chr4:159099800-159114200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:159099800-159131200	Weak transcription	HSMM	muscle
16	chr4:159099800-159131400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:159100000-159108600	Weak transcription	Ovary	ovary
18	chr4:159100200-159120200	Weak transcription	Aorta	Aorta
19	chr4:159100600-159106200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:159101600-159130400	Weak transcription	HUVEC	blood vessel
21	chr4:159103000-159104200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:159103200-159104400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:159103200-159105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:159103400-159104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:159103600-159104200	Enhancers	Brain Hippocampus Middle	brain
26	chr4:159103600-159104200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:159103600-159104200	Enhancers	Brain Substantia Nigra	brain
28	chr4:159103600-159104400	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:159103600-159104400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:159103600-159104600	Active TSS	K562	blood
31	chr4:159103600-159104800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:159103600-159113200	Weak transcription	HMEC	breast
33	chr4:159103600-159113800	Weak transcription	Left Ventricle	heart
34	chr4:159103800-159104200	Weak transcription	Brain Angular Gyrus	brain
35	chr4:159103800-159104400	Weak transcription	Brain Anterior Caudate	brain
36	chr4:159103800-159104600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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