Variant report

Variant	rs144016824
Chromosome Location	chr18:29263787-29263788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr18:29263679-29264362	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr18:29263693-29264491	HEK293	kidney:	n/a	n/a
3	POLR2A	chr18:29263761-29266391	GM19099	blood:	n/a	n/a
4	WRNIP1	chr18:29263720-29264733	GM12878	blood:	n/a	n/a
5	CHD1	chr18:29263327-29264447	GM12878	blood:	n/a	n/a
6	STAT3	chr18:29263744-29263833	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr18:29263608-29266533	GM12878	blood:	n/a	n/a
8	TBP	chr18:29263189-29263802	GM12878	blood:	n/a	chr18:29263250-29263261
9	RELA	chr18:29263748-29266310	GM12891	blood:	n/a	n/a
10	POLR2A	chr18:29263652-29266352	GM12878	blood:	n/a	n/a
11	POLR2A	chr18:29263662-29267464	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:29263741-29263791	HUVEC	blood vessel:	n/a
2	chr18:29263741-29263791	AG04449	skin:	fetal
3	chr18:29263741-29263791	RPTEC	kidney:	n/a
4	chr18:29263741-29263791	HEEpiC	esophagus:	n/a
5	chr18:29263741-29263791	SKMC	muscle:	n/a
6	chr18:29263741-29263791	GM19239	blood:	n/a
7	chr18:29263741-29263791	AG09309	skin:	n/a
8	chr18:29263741-29263791	MCF-7	breast:	n/a
9	chr18:29263741-29263791	NHDF-neo	bronchial:	n/a
10	chr18:29263741-29263791	LNCaP	prostate:	n/a
11	chr18:29263741-29263791	AG04450	lung:	fetal
12	chr18:29263741-29263791	HL-60	blood:	n/a
13	chr18:29263741-29263791	HCM	heart:	n/a
14	chr18:29263741-29263791	HRCEpiC	kidney:	n/a
15	chr18:29263741-29263791	U87	brain:	n/a
16	chr18:29263741-29263791	NB4	blood:	n/a
17	chr18:29263741-29263791	IMR90	lung:	fetal
18	chr18:29263741-29263791	BE2_C	brain:	n/a
19	chr18:29263741-29263791	Caco-2	colon:	n/a
20	chr18:29263741-29263791	SK-N-MC	brain:	n/a
21	chr18:29263741-29263791	MCF10A-Er-Src	breast:	n/a
22	chr18:29263741-29263791	HCPEpiC	choroid plexus:	n/a
23	chr18:29263741-29263791	AoSMC	blood vessel:	n/a
24	chr18:29263741-29263791	PANC-1	pancreas:	n/a
25	chr18:29263741-29263791	ovcar-3	ovarian:	n/a
26	chr18:29263741-29263791	HEK293	kidney:	embryo
27	chr18:29263741-29263791	K562	blood:	n/a
28	chr18:29263741-29263791	ProgFib	skin:	n/a
29	chr18:29263741-29263791	HCF	heart:	n/a
30	chr18:29263741-29263791	NH-A	brain:	n/a
31	chr18:29263741-29263791	HRPEpiC	eye:	n/a
32	chr18:29263741-29263791	NHBE	bronchial:	n/a
33	chr18:29263741-29263791	SAEC	small airway:	n/a
34	chr18:29263741-29263791	Jurkat	blood:	n/a
35	chr18:29263741-29263791	PFSK-1	brain:	n/a
36	chr18:29263741-29263791	HAEpiC	amniotic membrane:	n/a
37	chr18:29263741-29263791	AG10803	skin:	n/a
38	chr18:29263741-29263791	NT2-D1	testis:	n/a
39	chr18:29263741-29263791	HCT-116	colon:	n/a
40	chr18:29263741-29263791	ECC-1	luminal epithelium:	n/a
41	chr18:29263741-29263791	PrEC	prostate:	n/a
42	chr18:29263741-29263791	HPAEpiC	pulmonary alveolar:	n/a
43	chr18:29263741-29263791	HMEC	breast:	n/a
44	chr18:29263741-29263791	Hela-S3	cervix:	n/a
45	chr18:29263741-29263791	SK-N-SH	brain:	n/a
46	chr18:29263741-29263791	Hepatocyte	liver:	n/a
47	chr18:29263741-29263791	HNPCEpiC	eye:	n/a
48	chr18:29263741-29263791	T-47D	breast:	n/a
49	chr18:29263741-29263791	H1-hESC	embryonic stem cell:	embryo
50	chr18:29263741-29263791	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29235239..29238459-chr18:29263541..29266170,4	MCF-7	breast:
2	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259985	TF binding region
ENSG00000259985	CpG island
ENSG00000118276	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
3	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
4	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
5	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
12	chr18:29260000-29263800	Weak transcription	Osteobl	bone
13	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
14	chr18:29260400-29263800	Weak transcription	Liver	Liver
15	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr18:29260600-29263800	Weak transcription	Colonic Mucosa	Colon
17	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
18	chr18:29260600-29264200	Weak transcription	Lung	lung
19	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
20	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
21	chr18:29261000-29263800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:29261000-29264000	Weak transcription	Stomach Mucosa	stomach
23	chr18:29261000-29264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:29261000-29264200	Weak transcription	Gastric	stomach
25	chr18:29261600-29263800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr18:29261600-29265600	Active TSS	GM12878-XiMat	blood
27	chr18:29262000-29266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr18:29262400-29265800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr18:29262600-29264400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr18:29262600-29266400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr18:29262800-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:29262800-29265800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr18:29262800-29265800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr18:29262800-29265800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr18:29263000-29264600	Flanking Active TSS	Dnd41	blood
36	chr18:29263000-29265600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:29263000-29265800	Active TSS	Psoas Muscle	Psoas
38	chr18:29263000-29266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:29263000-29266400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr18:29263200-29263800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr18:29263200-29263800	Enhancers	Fetal Heart	heart
42	chr18:29263200-29263800	Enhancers	Fetal Lung	lung
43	chr18:29263200-29263800	Flanking Active TSS	A549	lung
44	chr18:29263200-29263800	Flanking Active TSS	HMEC	breast
45	chr18:29263200-29264000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:29263200-29264000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:29263200-29264000	Flanking Active TSS	Fetal Brain Female	brain
48	chr18:29263200-29264000	Flanking Active TSS	NHEK	skin
49	chr18:29263200-29264400	Flanking Active TSS	HUVEC	blood vessel
50	chr18:29263200-29265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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