Variant report

Variant	rs2267565
Chromosome Location	chr18:9804312-9804313
allele	A/C
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr18:9704970..9705828-chr18:9803794..9804466,4	MCF-7	breast:
4	chr18:9802828..9804342-chr18:9904799..9907367,2	K562	blood:
5	chr18:9803187..9805652-chr18:9928374..9931029,2	K562	blood:
6	chr18:9802480..9806529-chr18:9879304..9883173,3	K562	blood:
7	chr18:9803876..9804698-chr18:9814238..9815024,3	MCF-7	breast:
8	chr18:9803832..9806273-chr18:9946710..9949491,2	K562	blood:
9	chr18:9802880..9805666-chr18:9934392..9937556,3	K562	blood:
10	chr18:9613002..9616805-chr18:9800693..9804601,3	K562	blood:
11	chr18:9785332..9785885-chr18:9803823..9804560,2	MCF-7	breast:
12	chr18:9802052..9805093-chr18:9840296..9843352,4	K562	blood:
13	chr18:9796353..9798423-chr18:9802735..9804992,2	MCF-7	breast:
14	chr18:9136318..9138897-chr18:9803068..9804612,2	K562	blood:
15	chr18:9785079..9785885-chr18:9803823..9804560,4	MCF-7	breast:
16	chr18:9800652..9805908-chr18:9908377..9915779,12	K562	blood:
17	chr18:9779531..9781885-chr18:9803846..9806144,2	K562	blood:
18	chr18:9757328..9758357-chr18:9804207..9804764,3	MCF-7	breast:
19	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000265564	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000266127	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12454158	0.85[CEU][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12455453	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267561	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2267566	0.95[EUR][1000 genomes]
rs2267568	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2867813	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73940033	0.96[EUR][1000 genomes]
rs73940034	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8092013	0.81[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.82[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9771800-9807800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:9773600-9807000	Weak transcription	Lung	lung
3	chr18:9775600-9806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr18:9780200-9807000	Weak transcription	Pancreas	Pancrea
5	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:9792800-9807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9801600-9805200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:9801800-9804800	Enhancers	Brain Angular Gyrus	brain
9	chr18:9801800-9804800	Enhancers	Brain Hippocampus Middle	brain
10	chr18:9802000-9805000	Enhancers	Brain Substantia Nigra	brain
11	chr18:9802200-9804600	Enhancers	Fetal Heart	heart
12	chr18:9802200-9804600	Enhancers	Osteobl	bone
13	chr18:9802200-9804800	Enhancers	Brain Cingulate Gyrus	brain
14	chr18:9802400-9804400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:9802400-9804400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:9802400-9804600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:9802400-9804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:9802400-9804600	Enhancers	Left Ventricle	heart
19	chr18:9802400-9804600	Enhancers	Right Atrium	heart
20	chr18:9802400-9804600	Enhancers	Right Ventricle	heart
21	chr18:9802400-9804600	Enhancers	NHDF-Ad	bronchial
22	chr18:9802400-9804800	Enhancers	Aorta	Aorta
23	chr18:9802400-9804800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr18:9802400-9804800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr18:9802400-9805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:9802400-9805000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:9802400-9805000	Enhancers	Placenta	Placenta
28	chr18:9802400-9805000	Enhancers	Spleen	Spleen
29	chr18:9802600-9804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr18:9802600-9804400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:9802600-9804400	Enhancers	Brain Anterior Caudate	brain
32	chr18:9802600-9804400	Enhancers	Fetal Intestine Small	intestine
33	chr18:9802600-9804400	Enhancers	NHLF	lung
34	chr18:9802600-9804600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr18:9802600-9804600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:9802600-9804600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:9802600-9804600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:9802600-9804600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:9802600-9804600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:9802600-9804600	Enhancers	Fetal Intestine Large	intestine
41	chr18:9802600-9804600	Flanking Active TSS	K562	blood
42	chr18:9802600-9804800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:9802600-9804800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:9802600-9804800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:9802600-9804800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr18:9802600-9804800	Enhancers	Fetal Muscle Trunk	muscle
47	chr18:9802600-9804800	Enhancers	Ovary	ovary
48	chr18:9802600-9805000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr18:9802600-9805000	Enhancers	Adipose Nuclei	Adipose
50	chr18:9802600-9805600	Enhancers	Fetal Muscle Leg	muscle

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