Variant report

Variant	rs2867814
Chromosome Location	chr18:9804876-9804877
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9802514..9805093-chr18:9840296..9841826,2	K562	blood:
2	chr18:9796936..9799441-chr18:9804784..9806387,2	MCF-7	breast:
3	chr18:9704929..9711093-chr18:9801644..9805263,5	K562	blood:
4	chr18:9803187..9805652-chr18:9928374..9931029,2	K562	blood:
5	chr18:9802480..9806529-chr18:9879304..9883173,3	K562	blood:
6	chr18:9803832..9806273-chr18:9946710..9949491,2	K562	blood:
7	chr18:9802880..9805666-chr18:9934392..9937556,3	K562	blood:
8	chr18:9802052..9805093-chr18:9840296..9843352,4	K562	blood:
9	chr18:9796353..9798423-chr18:9802735..9804992,2	MCF-7	breast:
10	chr18:9800652..9805908-chr18:9908377..9915779,12	K562	blood:
11	chr18:9779531..9781885-chr18:9803846..9806144,2	K562	blood:
12	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12454355	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2867812	1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	chr18:9771800-9807800	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	chr18:9802000-9805000	Enhancers	Brain Substantia Nigra	brain
9	chr18:9802400-9805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:9802400-9805000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:9802400-9805000	Enhancers	Placenta	Placenta
12	chr18:9802400-9805000	Enhancers	Spleen	Spleen
13	chr18:9802600-9805000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr18:9802600-9805000	Enhancers	Adipose Nuclei	Adipose
15	chr18:9802600-9805600	Enhancers	Fetal Muscle Leg	muscle
16	chr18:9803000-9805000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr18:9803400-9805000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr18:9803600-9808200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:9803800-9805000	Enhancers	Fetal Brain Male	brain
20	chr18:9804000-9805000	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr18:9804000-9805000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:9804000-9805000	Enhancers	Esophagus	oesophagus
23	chr18:9804000-9805000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr18:9804200-9805000	Flanking Active TSS	HepG2	liver
25	chr18:9804200-9805200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr18:9804200-9805400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:9804200-9805800	Strong transcription	Hela-S3	cervix
28	chr18:9804200-9806800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
30	chr18:9804400-9805000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr18:9804400-9805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:9804400-9805600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr18:9804400-9806400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:9804400-9806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr18:9804400-9807000	Weak transcription	Gastric	stomach
36	chr18:9804400-9807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:9804400-9807800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:9804400-9808000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:9804400-9808200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr18:9804400-9808200	Weak transcription	HMEC	breast
41	chr18:9804400-9808400	Weak transcription	NHLF	lung
42	chr18:9804400-9808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:9804400-9808600	Weak transcription	Psoas Muscle	Psoas
44	chr18:9804600-9805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr18:9804600-9805000	Flanking Active TSS	Fetal Heart	heart
46	chr18:9804600-9805000	Weak transcription	Left Ventricle	heart
47	chr18:9804600-9805200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr18:9804600-9805400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:9804600-9805800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:9804600-9806400	Weak transcription	Fetal Intestine Large	intestine

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