Variant report

Variant	rs11872481
Chromosome Location	chr18:9128453-9128454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9102240..9104059-chr18:9127931..9130160,2	K562	blood:
2	chr18:9118153..9120041-chr18:9126919..9129587,2	K562	blood:
3	chr18:9126958..9128578-chr18:9134629..9136413,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000178127	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1034486	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs1046491	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs10502390	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10853373	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11081459	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11081463	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11081469	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs11660889	0.90[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs11661901	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs11661921	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs11663175	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs11663949	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs11872176	0.90[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11875086	0.93[AMR][1000 genomes]
rs11876775	0.93[AMR][1000 genomes]
rs11876821	1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs11877843	0.90[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs12454025	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12454497	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs12454908	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12454936	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12455304	0.89[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs12457266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12457429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12956160	0.81[AMR][1000 genomes]
rs12966444	0.89[CEU][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12966775	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12968060	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34322928	0.81[AMR][1000 genomes]
rs35002591	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35587943	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35774167	0.90[AMR][1000 genomes]
rs35849084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41274300	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62085924	0.87[AMR][1000 genomes]
rs62085926	0.87[AMR][1000 genomes]
rs62085927	0.81[AMR][1000 genomes]
rs6506641	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6506647	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs71362073	0.87[AMR][1000 genomes]
rs7226632	0.90[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs7229685	0.89[CEU][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes]
rs8085549	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs8085669	0.90[AMR][1000 genomes]
rs8086362	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs8089577	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs8090297	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8095601	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
5	chr18:9114000-9130800	Weak transcription	Ovary	ovary
6	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:9115800-9134800	Strong transcription	Dnd41	blood
8	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
9	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
11	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
13	chr18:9117400-9135800	Weak transcription	Gastric	stomach
14	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
16	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
17	chr18:9117800-9128800	Weak transcription	Lung	lung
18	chr18:9117800-9132600	Weak transcription	Aorta	Aorta
19	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
22	chr18:9118200-9134400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:9118400-9134400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr18:9118600-9134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:9118600-9135000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr18:9118800-9134400	Strong transcription	K562	blood
28	chr18:9118800-9135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:9118800-9135600	Weak transcription	Right Ventricle	heart
30	chr18:9119000-9132600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr18:9119200-9131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr18:9119200-9134400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr18:9119400-9135200	Weak transcription	Stomach Mucosa	stomach
34	chr18:9119600-9132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr18:9119800-9135000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr18:9119800-9135400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:9120000-9134800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9121200-9132600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:9121200-9133200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr18:9121200-9135200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr18:9121200-9135200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:9121400-9129600	Strong transcription	Liver	Liver
43	chr18:9121400-9134800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:9121800-9130400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:9121800-9134800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr18:9122400-9134600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:9122600-9130400	Strong transcription	NH-A	brain
48	chr18:9122800-9134800	Strong transcription	NHDF-Ad	bronchial
49	chr18:9123000-9132800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr18:9123200-9130000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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