Variant report

Variant	rs12454355
Chromosome Location	chr18:9803719-9803720
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr18:9803187..9805652-chr18:9928374..9931029,2	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	chr18:9802052..9805093-chr18:9840296..9843352,4	K562	blood:
11	chr18:9796353..9798423-chr18:9802735..9804992,2	MCF-7	breast:
12	chr18:9136318..9138897-chr18:9803068..9804612,2	K562	blood:
13	chr18:9800652..9805908-chr18:9908377..9915779,12	K562	blood:
14	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12970907	1.00[CHD][hapmap]
rs12970910	1.00[CHD][hapmap]
rs16955672	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs2867812	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2867813	1.00[CEU][hapmap]
rs2867814	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4798864	1.00[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:91 , 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	chr18:9783200-9804000	Weak transcription	NHEK	skin
7	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:9792800-9807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:9793200-9803800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:9798200-9804200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:9798400-9803800	Weak transcription	Fetal Lung	lung
12	chr18:9801600-9804000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:9801600-9804000	Enhancers	Colon Smooth Muscle	Colon
14	chr18:9801600-9804200	Genic enhancers	Hela-S3	cervix
15	chr18:9801600-9805200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:9801800-9804000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr18:9801800-9804200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:9801800-9804800	Enhancers	Brain Angular Gyrus	brain
19	chr18:9801800-9804800	Enhancers	Brain Hippocampus Middle	brain
20	chr18:9802000-9804000	Enhancers	Rectal Smooth Muscle	rectum
21	chr18:9802000-9805000	Enhancers	Brain Substantia Nigra	brain
22	chr18:9802200-9803800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr18:9802200-9804200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr18:9802200-9804600	Enhancers	Fetal Heart	heart
25	chr18:9802200-9804600	Enhancers	Osteobl	bone
26	chr18:9802200-9804800	Enhancers	Brain Cingulate Gyrus	brain
27	chr18:9802400-9803800	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr18:9802400-9804000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr18:9802400-9804000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:9802400-9804200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr18:9802400-9804400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:9802400-9804400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:9802400-9804600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:9802400-9804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:9802400-9804600	Enhancers	Left Ventricle	heart
36	chr18:9802400-9804600	Enhancers	Right Atrium	heart
37	chr18:9802400-9804600	Enhancers	Right Ventricle	heart
38	chr18:9802400-9804600	Enhancers	NHDF-Ad	bronchial
39	chr18:9802400-9804800	Enhancers	Aorta	Aorta
40	chr18:9802400-9804800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr18:9802400-9804800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr18:9802400-9805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:9802400-9805000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:9802400-9805000	Enhancers	Placenta	Placenta
45	chr18:9802400-9805000	Enhancers	Spleen	Spleen
46	chr18:9802600-9803800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr18:9802600-9804200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr18:9802600-9804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr18:9802600-9804400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:9802600-9804400	Enhancers	Brain Anterior Caudate	brain

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