Variant report

Variant	rs72639474
Chromosome Location	chr18:29264862-29264863
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	chr18:29264463-29265680	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr18:29263962-29266139	GM18951	blood:	n/a	n/a
3	POLR2A	chr18:29264611-29265542	GM12892	blood:	n/a	n/a
4	YY1	chr18:29264640-29264949	HepG2	liver:	n/a	chr18:29264812-29264826 chr18:29264915-29264929 chr18:29264915-29264924 chr18:29264821-29264835
5	MAX	chr18:29264066-29266173	GM12878	blood:	n/a	n/a
6	PAX5	chr18:29264648-29265609	GM12892	blood:	n/a	chr18:29265413-29265422
7	MAX	chr18:29264553-29266091	HepG2	liver:	n/a	n/a
8	PML	chr18:29263917-29266204	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr18:29264714-29265635	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr18:29264630-29265011	A549	lung:	n/a	n/a
11	POLR2A	chr18:29264613-29265566	HepG2	liver:	n/a	n/a
12	YY1	chr18:29264744-29266279	GM12878	blood:	n/a	chr18:29265433-29265447 chr18:29265348-29265359 chr18:29265144-29265158 chr18:29265143-29265152 chr18:29264812-29264826 chr18:29264915-29264929 chr18:29264915-29264924 chr18:29264821-29264835
13	POLR2A	chr18:29264354-29266101	GM10847	blood:	n/a	n/a
14	POLR2A	chr18:29264493-29266183	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr18:29264700-29264910	H1-hESC	embryonic stem cell:	n/a	chr18:29264734-29264744
16	MXI1	chr18:29264065-29265493	GM12878	blood:	n/a	n/a
17	POLR2A	chr18:29264160-29266130	GM12878	blood:	n/a	n/a
18	POLR2A	chr18:29264596-29265585	NB4	blood:	n/a	n/a
19	POLR2A	chr18:29264652-29264922	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr18:29264641-29264898	HepG2	liver:	n/a	n/a
21	CTCF	chr18:29264760-29264910	GM12864	blood:	n/a	n/a
22	SIN3A	chr18:29263824-29266100	H1-hESC	embryonic stem cell:	n/a	chr18:29265439-29265452 chr18:29265145-29265158
23	POLR2A	chr18:29264641-29264922	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr18:29264143-29266339	GM18505	blood:	n/a	n/a
25	MAX	chr18:29264051-29266252	A549	lung:	n/a	n/a
26	POLR2A	chr18:29264087-29265019	H1-neurons	neurons:	n/a	n/a
27	MAX	chr18:29264538-29264969	A549	lung:	n/a	n/a
28	POLR2A	chr18:29264382-29265653	MCF-7	breast:	n/a	n/a
29	MAZ	chr18:29264719-29265522	Hela-S3	cervix:	n/a	n/a
30	MAX	chr18:29264711-29264883	NB4	blood:	n/a	n/a
31	POLR2A	chr18:29264009-29266286	GM12892	blood:	n/a	n/a
32	MYC	chr18:29264615-29264944	MCF-7	breast:	n/a	n/a
33	BHLHE40	chr18:29264735-29265593	GM12878	blood:	n/a	chr18:29265261-29265277 chr18:29265141-29265157 chr18:29265431-29265447
34	POLR2A	chr18:29264318-29265533	Gliobla	brain:	n/a	n/a
35	POLR2A	chr18:29264732-29264901	GM12878	blood:	n/a	n/a
36	ZBTB7A	chr18:29264640-29264874	HepG2	liver:	n/a	n/a
37	MAX	chr18:29264550-29265404	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr18:29264697-29266279	GM12878	blood:	n/a	n/a
39	POLR2A	chr18:29264346-29265559	A549	lung:	n/a	n/a
40	ZBTB7A	chr18:29264244-29265041	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr18:29264721-29265505	HCT-116	colon:	n/a	n/a
42	POLR2A	chr18:29264649-29265699	HCT-116	colon:	n/a	n/a
43	TBP	chr18:29264361-29264896	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr18:29263761-29266391	GM19099	blood:	n/a	n/a
45	CTCF	chr18:29264673-29264871	GM19240	blood:	n/a	n/a
46	POLR2A	chr18:29264676-29265478	HepG2	liver:	n/a	n/a
47	POLR2A	chr18:29263999-29266298	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr18:29264508-29266381	SK-N-SH	brain:	n/a	chr18:29265145-29265158
49	POLR2A	chr18:29264055-29264987	H1-neurons	neurons:	n/a	n/a
50	MAZ	chr18:29264223-29266189	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56708485..56709372-chr18:29264759..29265403,2	Hela-S3	cervix:
2	chr18:29235239..29238459-chr18:29263541..29266170,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTR-1	chr18:29264688-29267822	NONHSAT058829

Variant related genes	Relation type
B4GALT6	TF binding region
ENSG00000259985	TF binding region
ENSG00000118276	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1449081	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449084	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1615331	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1791182	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs970866	0.86[AMR][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	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3344706	chr18:29263704-29266352	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29261600-29265600	Active TSS	GM12878-XiMat	blood
2	chr18:29262000-29266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr18:29262400-29265800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:29262600-29266400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr18:29262800-29265800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr18:29262800-29265800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr18:29262800-29265800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr18:29263000-29265600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:29263000-29265800	Active TSS	Psoas Muscle	Psoas
10	chr18:29263000-29266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:29263000-29266400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr18:29263200-29265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:29263200-29265600	Active TSS	Primary T cells from cord blood	blood
14	chr18:29263200-29265600	Active TSS	Duodenum Mucosa	Duodenum
15	chr18:29263200-29265800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:29263200-29265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:29263200-29266200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:29263200-29266200	Active TSS	Brain Angular Gyrus	brain
19	chr18:29263200-29266200	Active TSS	Brain Cingulate Gyrus	brain
20	chr18:29263200-29266400	Active TSS	Brain Anterior Caudate	brain
21	chr18:29263200-29266400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:29263400-29266200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:29263400-29266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:29263600-29265600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:29263600-29265600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:29263600-29265800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr18:29263600-29265800	Active TSS	Right Atrium	heart
28	chr18:29263600-29266000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:29263600-29266200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr18:29263600-29266200	Active TSS	Colon Smooth Muscle	Colon
31	chr18:29263600-29266600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr18:29263800-29265600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:29263800-29265600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:29263800-29265800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:29263800-29265800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr18:29263800-29265800	Active TSS	HMEC	breast
37	chr18:29263800-29265800	Active TSS	NHLF	lung
38	chr18:29263800-29266000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr18:29263800-29266000	Active TSS	A549	lung
40	chr18:29263800-29266000	Active TSS	NHDF-Ad	bronchial
41	chr18:29264000-29265600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:29264000-29265600	Active TSS	Primary hematopoietic stem cells	blood
43	chr18:29264000-29265600	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr18:29264000-29265800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr18:29264000-29265800	Active TSS	Fetal Brain Female	brain
46	chr18:29264000-29265800	Active TSS	Fetal Intestine Large	intestine
47	chr18:29264000-29265800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr18:29264000-29265800	Active TSS	Rectal Smooth Muscle	rectum
49	chr18:29264000-29266000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:29264000-29266000	Active TSS	Ovary	ovary

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