Variant report

Variant	rs56286118
Chromosome Location	chr18:24284000-24284001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr18:24283206-24284075	NB4	blood:	n/a	chr18:24283577-24283586 chr18:24283750-24283761
2	POLR2A	chr18:24283384-24284137	NB4	blood:	n/a	n/a
3	MYC	chr18:24283459-24284058	NB4	blood:	n/a	chr18:24283577-24283586 chr18:24283750-24283761
4	BACH1	chr18:24283831-24284078	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr18:24283718-24284062	MCF10A-Er-Src	breast:	n/a	chr18:24283879-24283887 chr18:24283878-24283888 chr18:24283878-24283888 chr18:24283877-24283889 chr18:24283878-24283888
6	STAT3	chr18:24283780-24284063	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:24283977-24284027	HIPEpiC	eye:	n/a
2	chr18:24283977-24284027	HUVEC	blood vessel:	n/a
3	chr18:24283977-24284027	HRPEpiC	eye:	n/a
4	chr18:24283977-24284027	HCT-116	colon:	n/a
5	chr18:24283977-24284027	NH-A	brain:	n/a
6	chr18:24283977-24284027	CMK	blood:	n/a
7	chr18:24283977-24284027	ECC-1	luminal epithelium:	n/a
8	chr18:24283977-24284027	T-47D	breast:	n/a
9	chr18:24283977-24284027	AoSMC	blood vessel:	n/a
10	chr18:24283977-24284027	Hela-S3	cervix:	n/a
11	chr18:24283977-24284027	Caco-2	colon:	n/a
12	chr18:24283977-24284027	PFSK-1	brain:	n/a
13	chr18:24283977-24284027	SK-N-SH_RA	brain:	n/a
14	chr18:24283977-24284027	AG10803	skin:	n/a
15	chr18:24283977-24284027	GM19239	blood:	n/a
16	chr18:24283977-24284027	HEK293	kidney:	embryo
17	chr18:24283977-24284027	A549	lung:	n/a
18	chr18:24283977-24284027	MCF-7	breast:	n/a
19	chr18:24283977-24284027	PANC-1	pancreas:	n/a
20	chr18:24283977-24284027	HPAEpiC	pulmonary alveolar:	n/a
21	chr18:24283977-24284027	AG04450	lung:	fetal
22	chr18:24283977-24284027	AG04449	skin:	fetal
23	chr18:24283977-24284027	H1-hESC	embryonic stem cell:	embryo
24	chr18:24283977-24284027	HepG2	liver:	n/a
25	chr18:24283977-24284027	GM06990	blood:	n/a
26	chr18:24283977-24284027	SAEC	small airway:	n/a
27	chr18:24283977-24284027	MCF10A-Er-Src	breast:	n/a
28	chr18:24283977-24284027	HRE	kidney:	n/a
29	chr18:24283977-24284027	HAEpiC	amniotic membrane:	n/a
30	chr18:24283977-24284027	HNPCEpiC	eye:	n/a
31	chr18:24283977-24284027	HCPEpiC	choroid plexus:	n/a
32	chr18:24283977-24284027	SKMC	muscle:	n/a
33	chr18:24283977-24284027	ProgFib	skin:	n/a
34	chr18:24283977-24284027	NHDF-neo	bronchial:	n/a
35	chr18:24283977-24284027	BE2_C	brain:	n/a
36	chr18:24283977-24284027	PrEC	prostate:	n/a
37	chr18:24283977-24284027	SK-N-SH	brain:	n/a
38	chr18:24283977-24284027	GM12891	blood:	n/a
39	chr18:24283977-24284027	Hepatocyte	liver:	n/a
40	chr18:24283977-24284027	SK-N-MC	brain:	n/a
41	chr18:24283977-24284027	HCF	heart:	n/a
42	chr18:24283977-24284027	HL-60	blood:	n/a
43	chr18:24283977-24284027	GM12892	blood:	n/a
44	chr18:24283977-24284027	RPTEC	kidney:	n/a
45	chr18:24283977-24284027	AG09309	skin:	n/a
46	chr18:24283977-24284027	HEEpiC	esophagus:	n/a
47	chr18:24283977-24284027	NT2-D1	testis:	n/a
48	chr18:24283977-24284027	BJ	skin:	n/a
49	chr18:24283977-24284027	IMR90	lung:	fetal
50	chr18:24283977-24284027	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000265369	TF binding region
ENSG00000265369	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16942366	1.00[AMR][1000 genomes]
rs16942367	1.00[AMR][1000 genomes]
rs16942370	1.00[AMR][1000 genomes]
rs16942373	1.00[AMR][1000 genomes]
rs60167774	1.00[AMR][1000 genomes]
rs7229182	1.00[AMR][1000 genomes]
rs7230487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7241492	1.00[AMR][1000 genomes]
rs8094438	1.00[AMR][1000 genomes]
rs8095320	1.00[AMR][1000 genomes]
rs8096093	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761995	chr18:24214286-24502570	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24267600-24287200	Weak transcription	Fetal Kidney	kidney
2	chr18:24279200-24284600	Enhancers	Fetal Thymus	thymus
3	chr18:24280000-24293000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr18:24280200-24284200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:24280800-24286000	Weak transcription	Primary B cells from cord blood	blood
6	chr18:24282400-24284200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:24282400-24284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:24282400-24284800	Enhancers	Dnd41	blood
9	chr18:24282400-24286400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr18:24282400-24289400	Weak transcription	Thymus	Thymus
11	chr18:24283200-24284000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr18:24283200-24286600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr18:24283400-24284000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr18:24283400-24284000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr18:24283400-24284000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr18:24283400-24284200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr18:24283600-24284000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:24283600-24284000	Enhancers	Hela-S3	cervix
19	chr18:24283600-24284200	Enhancers	Pancreas	Pancrea
20	chr18:24283600-24284400	Enhancers	Stomach Mucosa	stomach
21	chr18:24283600-24284800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:24283600-24288600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:24283800-24286600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr18:24284000-24284200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr18:24284000-24284200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr18:24284000-24284400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr18:24284000-24287000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr18:24284000-24288800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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