Variant report

Variant	rs45592843
Chromosome Location	chr2:31608174-31608175
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	BCL3	chr2:31607173-31608244	A549	lung:	n/a	chr2:31607409-31607418
2	GTF2F1	chr2:31607213-31608361	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr2:31606973-31608549	SK-N-SH	brain:	n/a	n/a
4	SP1	chr2:31607117-31608178	HCT-116	colon:	n/a	chr2:31607543-31607557 chr2:31607659-31607666
5	SMC3	chr2:31607245-31608288	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:31607625-31608199	A549	lung:	n/a	n/a
7	STAT3	chr2:31606697-31608190	MCF10A-Er-Src	breast:	n/a	chr2:31607540-31607552
8	EP300	chr2:31607149-31608221	A549	lung:	n/a	n/a
9	MYC	chr2:31607296-31608272	MCF10A-Er-Src	breast:	n/a	chr2:31607409-31607418
10	JUND	chr2:31606800-31608429	SK-N-SH	brain:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
11	CEBPB	chr2:31607119-31608244	HCT-116	colon:	n/a	n/a
12	FOSL2	chr2:31607072-31608252	SK-N-SH	brain:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
13	RAD21	chr2:31607206-31608180	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr2:31607023-31608210	SK-N-SH	brain:	n/a	chr2:31607819-31607829
15	SP1	chr2:31607101-31608281	A549	lung:	n/a	chr2:31607543-31607557 chr2:31607659-31607666
16	FOSL2	chr2:31607121-31608383	A549	lung:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
17	FOS	chr2:31607207-31608308	MCF10A-Er-Src	breast:	n/a	chr2:31607408-31607420 chr2:31607408-31607419 chr2:31607410-31607418
18	TCF12	chr2:31606488-31608278	SK-N-SH	brain:	n/a	n/a
19	TFAP2C	chr2:31607385-31608270	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr2:31607071-31608347	A549	lung:	n/a	chr2:31607819-31607829
21	ATF3	chr2:31607258-31608244	A549	lung:	n/a	n/a
22	CEBPB	chr2:31607277-31608248	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:31607119-31608313	A549	lung:	n/a	n/a
24	EP300	chr2:31607017-31608185	SK-N-SH	brain:	n/a	n/a
25	CEBPB	chr2:31607246-31608362	Hela-S3	cervix:	n/a	n/a
26	MEF2A	chr2:31606931-31608204	SK-N-SH	brain:	n/a	chr2:31607410-31607418
27	TEAD4	chr2:31607072-31608261	SK-N-SH	brain:	n/a	n/a
28	EP300	chr2:31606940-31608272	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr2:31607187-31608272	IMR90	lung:	n/a	n/a
30	CEBPB	chr2:31607544-31608224	A549	lung:	n/a	n/a
31	GATA3	chr2:31606546-31608244	SK-N-SH	brain:	n/a	chr2:31607819-31607829
32	MAX	chr2:31607005-31608628	A549	lung:	n/a	chr2:31607409-31607418
33	PBX3	chr2:31607040-31608198	SK-N-SH	brain:	n/a	n/a
34	E2F6	chr2:31607026-31608400	A549	lung:	n/a	n/a
35	JUND	chr2:31607209-31608183	A549	lung:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
36	MAX	chr2:31607046-31608614	A549	lung:	n/a	chr2:31607409-31607418
37	YY1	chr2:31607680-31608280	A549	lung:	n/a	n/a
38	POLR2A	chr2:31606517-31608237	IMR90	lung:	n/a	n/a
39	JUN	chr2:31607238-31608198	Hela-S3	cervix:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
40	MAFK	chr2:31607311-31608306	Hela-S3	cervix:	n/a	chr2:31607540-31607555
41	SMARCC1	chr2:31607222-31608543	Hela-S3	cervix:	n/a	n/a
42	SP1	chr2:31607077-31608254	A549	lung:	n/a	chr2:31607543-31607557 chr2:31607659-31607666
43	MAX	chr2:31607640-31608201	SK-N-SH	brain:	n/a	n/a
44	TCF12	chr2:31606963-31608419	A549	lung:	n/a	n/a
45	MAX	chr2:31607607-31608196	SK-N-SH	brain:	n/a	n/a
46	JUND	chr2:31607287-31608174	A549	lung:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
47	REST	chr2:31607166-31608208	A549	lung:	n/a	chr2:31607469-31607482 chr2:31607552-31607562 chr2:31607465-31607485
48	EP300	chr2:31607107-31608361	A549	lung:	n/a	n/a
49	JUND	chr2:31606430-31608427	SK-N-SH	brain:	n/a	chr2:31607408-31607420 chr2:31607410-31607418
50	TCF7L2	chr2:31607221-31608224	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
XDH	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs45451209	1.00[EUR][1000 genomes]
rs45503198	0.86[EUR][1000 genomes]
rs45519736	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45528140	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45566738	1.00[EUR][1000 genomes]
rs45621133	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45627034	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking 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	39 gene(s)	inside rSNPs	diseases
4	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
5	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:31602200-31613400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:31602800-31614200	Strong transcription	Liver	Liver
9	chr2:31603000-31612000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:31603000-31612400	Strong transcription	Fetal Intestine Small	intestine
11	chr2:31604200-31609400	Enhancers	Placenta	Placenta
12	chr2:31604600-31608600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:31604600-31609800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:31605200-31608600	Enhancers	NH-A	brain
15	chr2:31605200-31608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:31605200-31609000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:31605200-31609600	Genic enhancers	HMEC	breast
18	chr2:31605200-31612600	Genic enhancers	NHEK	skin
19	chr2:31605400-31608400	Enhancers	HSMM	muscle
20	chr2:31605400-31608600	Enhancers	NHLF	lung
21	chr2:31605400-31609600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:31605600-31608400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:31605600-31608600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:31605600-31608800	Enhancers	NHDF-Ad	bronchial
25	chr2:31605800-31608400	Enhancers	HSMMtube	muscle
26	chr2:31605800-31608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:31606200-31609200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:31606200-31610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:31606400-31608400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:31606600-31608200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:31606600-31612600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:31607400-31608200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:31607400-31608400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:31607600-31608200	Enhancers	Stomach Mucosa	stomach
35	chr2:31607600-31608800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:31607800-31608200	Enhancers	A549	lung
37	chr2:31607800-31608400	Enhancers	Osteobl	bone
38	chr2:31607800-31608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:31607800-31609200	Weak transcription	GM12878-XiMat	blood
40	chr2:31607800-31609400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:31607800-31609400	Enhancers	Hela-S3	cervix
42	chr2:31607800-31614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:31608000-31608600	Active TSS	Spleen	Spleen
44	chr2:31608000-31608800	Enhancers	Esophagus	oesophagus
45	chr2:31608000-31609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:31608000-31609400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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