Variant report

Variant	rs1786993
Chromosome Location	chr18:13093353-13093354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12991401..12992947-chr18:13092444..13094824,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10164063	1.00[EUR][1000 genomes]
rs11080631	1.00[EUR][1000 genomes]
rs1613375	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs1893324	1.00[EUR][1000 genomes]
rs1893325	1.00[EUR][1000 genomes]
rs1945136	1.00[EUR][1000 genomes]
rs2027693	1.00[EUR][1000 genomes]
rs2027694	1.00[EUR][1000 genomes]
rs2155864	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs4239310	1.00[EUR][1000 genomes]
rs478502	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4796970	1.00[EUR][1000 genomes]
rs482642	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs483647	1.00[EUR][1000 genomes]
rs486976	1.00[EUR][1000 genomes]
rs506877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs533010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs543201	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs547479	0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569831	1.00[EUR][1000 genomes]
rs575250	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57580816	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58839955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7238800	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs73419545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9945456	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:13056600-13095600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:13067000-13094600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:13071000-13095600	Weak transcription	Right Ventricle	heart
6	chr18:13071400-13095600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:13072000-13095800	Weak transcription	Fetal Brain Male	brain
8	chr18:13072200-13094400	Weak transcription	Pancreas	Pancrea
9	chr18:13072400-13095600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:13073400-13093800	Weak transcription	Fetal Heart	heart
11	chr18:13073400-13094000	Weak transcription	NHLF	lung
12	chr18:13075200-13094400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:13075400-13105400	Weak transcription	Psoas Muscle	Psoas
14	chr18:13075800-13095600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:13076200-13093600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:13076200-13095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:13076400-13095600	Weak transcription	Colonic Mucosa	Colon
18	chr18:13077200-13095800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr18:13083200-13097600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr18:13084400-13096600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:13084800-13094400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:13084800-13097400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:13085000-13094400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:13085200-13094400	Weak transcription	Fetal Intestine Small	intestine
25	chr18:13085200-13096200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:13085600-13095600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:13086000-13097400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr18:13086000-13097600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr18:13086000-13098000	Strong transcription	Fetal Thymus	thymus
30	chr18:13086000-13109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:13086200-13095800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:13086200-13097600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr18:13086200-13098200	Strong transcription	Liver	Liver
34	chr18:13086400-13096400	Strong transcription	Dnd41	blood
35	chr18:13086400-13097600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr18:13086400-13097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:13086400-13097600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr18:13086400-13097600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr18:13086600-13097600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:13086800-13096400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:13087000-13097400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:13087000-13097600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:13087000-13098000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:13087400-13097800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:13087600-13097600	Strong transcription	GM12878-XiMat	blood
47	chr18:13088000-13095800	Weak transcription	NHDF-Ad	bronchial
48	chr18:13088800-13097600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr18:13089400-13096200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr18:13089400-13097200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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