Variant report

Variant	rs45542031
Chromosome Location	chr18:11982242-11982243
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11981732..11982258-chr7:137687279..137688011,2	Hela-S3	cervix:
2	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
3	chr18:11905898..11908508-chr18:11980358..11982828,3	K562	blood:
4	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
5	chr18:11851619..11853678-chr18:11981084..11983023,2	MCF-7	breast:
6	chr18:11981635..11982452-chr8:37962701..37963302,2	Hela-S3	cervix:
7	chr1:157107368..157108324-chr18:11981553..11982331,2	Hela-S3	cervix:
8	chr18:11906869..11908788-chr18:11979428..11982249,2	K562	blood:
9	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
10	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
11	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267165	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000266955	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000129691	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000117036	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11876711	0.89[ASN][1000 genomes]
rs59626352	0.91[ASN][1000 genomes]
rs60104639	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61244183	0.88[ASN][1000 genomes]
rs647077	0.95[ASN][1000 genomes]
rs73402725	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73402735	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73402736	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73402737	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402739	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	esv3424914	chr18:11980377-11982925	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11980000-11982600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:11980000-11983200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:11980000-11983200	Active TSS	Psoas Muscle	Psoas
4	chr18:11980200-11982400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr18:11980200-11982400	Active TSS	Aorta	Aorta
6	chr18:11980200-11982400	Active TSS	Brain Substantia Nigra	brain
7	chr18:11980200-11982400	Active TSS	Ovary	ovary
8	chr18:11980200-11982600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:11980200-11982600	Active TSS	Colon Smooth Muscle	Colon
10	chr18:11980200-11982600	Active TSS	Right Ventricle	heart
11	chr18:11980200-11982800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr18:11980200-11982800	Active TSS	A549	lung
13	chr18:11980200-11983000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr18:11980200-11983000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:11980200-11983000	Active TSS	Fetal Kidney	kidney
16	chr18:11980200-11983000	Active TSS	Left Ventricle	heart
17	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr18:11980400-11982400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:11980400-11982400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:11980400-11982400	Active TSS	Lung	lung
21	chr18:11980400-11982400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr18:11980400-11982600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr18:11980400-11982600	Active TSS	HSMM	muscle
24	chr18:11980400-11982800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr18:11980400-11982800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr18:11980400-11982800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr18:11980400-11982800	Active TSS	HepG2	liver
28	chr18:11980400-11983000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr18:11980400-11983000	Active TSS	Fetal Intestine Large	intestine
30	chr18:11980400-11983200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr18:11980400-11983200	Active TSS	Esophagus	oesophagus
32	chr18:11980600-11982400	Active TSS	Gastric	stomach
33	chr18:11980600-11982400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr18:11980600-11982400	Active TSS	Small Intestine	intestine
35	chr18:11980600-11982600	Active TSS	NHDF-Ad	bronchial
36	chr18:11980600-11982600	Active TSS	Osteobl	bone
37	chr18:11980600-11982800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:11980600-11982800	Active TSS	Hela-S3	cervix
39	chr18:11980600-11983000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr18:11980600-11983000	Active TSS	Liver	Liver
41	chr18:11980600-11983200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:11980600-11983400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr18:11980800-11982400	Active TSS	NHEK	skin
44	chr18:11980800-11982600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:11980800-11982600	Active TSS	Colonic Mucosa	Colon
46	chr18:11980800-11982600	Active TSS	HMEC	breast
47	chr18:11980800-11982600	Active TSS	NHLF	lung
48	chr18:11980800-11982800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:11980800-11983000	Active TSS	Duodenum Mucosa	Duodenum
50	chr18:11980800-11983800	Active TSS	Pancreas	Pancrea

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