Variant report

Variant	rs2043734
Chromosome Location	chr18:28682989-28682990
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	KAP1	chr18:28682213-28683824	U2OS	brain:	n/a	chr18:28683499-28683508 chr18:28683113-28683122
2	CEBPB	chr18:28682889-28683144	K562	blood:	n/a	n/a
3	JUND	chr18:28682867-28683883	HCT-116	colon:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
4	POLR2A	chr18:28680717-28683015	HepG2	liver:	n/a	n/a
5	FOS	chr18:28682913-28683739	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
6	FOS	chr18:28682939-28683280	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683110-28683122
7	STAT3	chr18:28682939-28683401	MCF10A-Er-Src	breast:	n/a	chr18:28683172-28683183
8	FOS	chr18:28682861-28683673	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
9	TAL1	chr18:28682144-28683226	K562	blood:	n/a	n/a
10	POLR2A	chr18:28680300-28683139	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL1	chr18:28682785-28683853	HCT-116	colon:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
12	CCNT2	chr18:28680912-28683139	K562	blood:	n/a	chr18:28681229-28681238 chr18:28681714-28681723
13	STAT3	chr18:28682914-28683269	MCF10A-Er-Src	breast:	n/a	chr18:28683172-28683183
14	ARID3A	chr18:28682894-28683193	K562	blood:	n/a	n/a
15	POLR2A	chr18:28680002-28683936	K562	blood:	n/a	n/a
16	MYC	chr18:28682815-28683270	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683121
17	KAP1	chr18:28681981-28683808	HEK293	kidney:	n/a	chr18:28683499-28683508 chr18:28683113-28683122
18	TEAD4	chr18:28682841-28683283	K562	blood:	n/a	n/a
19	FOS	chr18:28682733-28683723	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
20	EP300	chr18:28682982-28683220	K562	blood:	n/a	n/a
21	JUND	chr18:28680543-28683681	K562	blood:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28681049-28681058 chr18:28683605-28683614
22	MAFF	chr18:28682803-28683643	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:28652105..28654902-chr18:28682018..28683959,2	K562	blood:
2	chr18:28682670..28684930-chr18:28689763..28691596,2	K562	blood:
3	chr18:28682778..28684607-chr18:28773976..28775884,2	MCF-7	breast:

Variant related genes	Relation type
DSC2	TF binding region
ENSG00000238376	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16948612	1.00[AMR][1000 genomes]
rs28520988	1.00[AMR][1000 genomes]
rs28584973	1.00[AMR][1000 genomes]
rs28620831	1.00[AMR][1000 genomes]
rs7240259	1.00[AMR][1000 genomes]
rs9946137	1.00[AMR][1000 genomes]
rs9957402	1.00[AMR][1000 genomes]
rs9957506	1.00[AMR][1000 genomes]
rs9961861	1.00[AMR][1000 genomes]
rs9963657	1.00[AMR][1000 genomes]
rs9964449	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28680200-28683000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr18:28682400-28683000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:28682400-28683200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr18:28682400-28683200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:28682400-28683600	Flanking Active TSS	NHEK	skin
6	chr18:28682600-28683000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr18:28682600-28683000	Enhancers	Fetal Heart	heart
8	chr18:28682600-28683000	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr18:28682600-28683000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr18:28682600-28683000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr18:28682600-28683000	Flanking Active TSS	HepG2	liver
12	chr18:28682600-28683200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr18:28682600-28683200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr18:28682600-28683200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr18:28682600-28683200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr18:28682600-28683200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:28682600-28683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:28682600-28683800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:28682600-28684600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr18:28682600-28685400	Weak transcription	Esophagus	oesophagus
21	chr18:28682800-28683000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr18:28682800-28683000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr18:28682800-28683000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:28682800-28683000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:28682800-28683000	Enhancers	Duodenum Mucosa	Duodenum
26	chr18:28682800-28683000	Enhancers	Fetal Intestine Large	intestine
27	chr18:28682800-28683200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr18:28682800-28683200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr18:28682800-28683400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:28682800-28683600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr18:28682800-28683600	Enhancers	K562	blood
32	chr18:28682800-28684000	Enhancers	HMEC	breast
33	chr18:28682800-28687200	Weak transcription	Stomach Mucosa	stomach

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