Variant report

Variant	rs2267567
Chromosome Location	chr18:9802893-9802894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9802514..9805093-chr18:9840296..9841826,2	K562	blood:
2	chr18:9704929..9711093-chr18:9801644..9805263,5	K562	blood:
3	chr18:9802828..9804342-chr18:9904799..9907367,2	K562	blood:
4	chr18:9795590..9800320-chr18:9801638..9804306,8	K562	blood:
5	chr18:9786425..9791088-chr18:9800234..9803479,5	K562	blood:
6	chr18:9802480..9806529-chr18:9879304..9883173,3	K562	blood:
7	chr18:9802880..9805666-chr18:9934392..9937556,3	K562	blood:
8	chr18:9801730..9804274-chr18:9913788..9916136,2	K562	blood:
9	chr18:9613002..9616805-chr18:9800693..9804601,3	K562	blood:
10	chr18:9801911..9803642-chr18:9956251..9957967,2	K562	blood:
11	chr18:9802052..9805093-chr18:9840296..9843352,4	K562	blood:
12	chr18:9708264..9710845-chr18:9800702..9803608,2	MCF-7	breast:
13	chr18:9796353..9798423-chr18:9802735..9804992,2	MCF-7	breast:
14	chr18:9801306..9803613-chr18:9951073..9953026,2	K562	blood:
15	chr18:9800652..9805908-chr18:9908377..9915779,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272799	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000265564	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1029868	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs12455141	0.80[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13381902	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2109615	0.81[EUR][1000 genomes]
rs2109616	0.87[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2267571	0.80[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3786425	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280317	0.83[EUR][1000 genomes]
rs6650630	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67812325	0.82[EUR][1000 genomes]
rs731440	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs733568	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs733569	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs733570	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8094513	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9949761	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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 miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9771800-9803800	Weak transcription	Fetal Stomach	stomach
2	chr18:9771800-9807800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:9773600-9807000	Weak transcription	Lung	lung
4	chr18:9775600-9806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:9780200-9807000	Weak transcription	Pancreas	Pancrea
6	chr18:9782400-9803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:9783200-9804000	Weak transcription	NHEK	skin
8	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9792800-9807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:9793200-9803800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:9794200-9803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:9797600-9803000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:9798200-9804200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr18:9798400-9803400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr18:9798400-9803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:9798400-9803800	Weak transcription	Fetal Lung	lung
17	chr18:9798800-9803600	Weak transcription	Brain Germinal Matrix	brain
18	chr18:9801600-9804000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:9801600-9804000	Enhancers	Colon Smooth Muscle	Colon
20	chr18:9801600-9804200	Genic enhancers	Hela-S3	cervix
21	chr18:9801600-9805200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr18:9801800-9804000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:9801800-9804200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:9801800-9804800	Enhancers	Brain Angular Gyrus	brain
25	chr18:9801800-9804800	Enhancers	Brain Hippocampus Middle	brain
26	chr18:9802000-9804000	Enhancers	Rectal Smooth Muscle	rectum
27	chr18:9802000-9805000	Enhancers	Brain Substantia Nigra	brain
28	chr18:9802200-9803000	Enhancers	HepG2	liver
29	chr18:9802200-9803800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr18:9802200-9804200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr18:9802200-9804600	Enhancers	Fetal Heart	heart
32	chr18:9802200-9804600	Enhancers	Osteobl	bone
33	chr18:9802200-9804800	Enhancers	Brain Cingulate Gyrus	brain
34	chr18:9802400-9803000	Enhancers	Stomach Smooth Muscle	stomach
35	chr18:9802400-9803800	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr18:9802400-9804000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr18:9802400-9804000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:9802400-9804200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr18:9802400-9804400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:9802400-9804400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:9802400-9804600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:9802400-9804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:9802400-9804600	Enhancers	Left Ventricle	heart
44	chr18:9802400-9804600	Enhancers	Right Atrium	heart
45	chr18:9802400-9804600	Enhancers	Right Ventricle	heart
46	chr18:9802400-9804600	Enhancers	NHDF-Ad	bronchial
47	chr18:9802400-9804800	Enhancers	Aorta	Aorta
48	chr18:9802400-9804800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr18:9802400-9804800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr18:9802400-9805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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