Variant report

Variant	rs694039
Chromosome Location	chr18:11962813-11962814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11961001..11963298-chr18:11980089..11982172,2	K562	blood:
2	chr18:11961487..11963465-chr18:11979793..11981920,2	K562	blood:

Variant related genes	Relation type
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1662602	0.90[ASN][1000 genomes]
rs1787983	0.85[AFR][1000 genomes]
rs1787984	0.81[CEU][hapmap]
rs2586219	0.85[AFR][1000 genomes]
rs28377581	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28482939	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28493661	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28561563	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28673951	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3865368	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4455029	0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4797605	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58116004	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs584373	0.89[ASN][1000 genomes]
rs585247	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs610541	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs619671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62097454	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62097455	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664217	0.88[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73945297	0.84[ASN][1000 genomes]
rs8088851	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8090352	0.85[AFR][1000 genomes]
rs8091268	0.88[AFR][1000 genomes]
rs8097527	0.82[EUR][1000 genomes]
rs8098914	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs971363	0.81[JPT][hapmap]
rs9960943	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	esv3333226	chr18:11960827-11963125	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11952200-11964000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr18:11961000-11963800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:11961200-11972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:11961400-11963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:11962200-11963000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:11962200-11963000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:11962200-11963000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:11962200-11963000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr18:11962200-11963000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:11962200-11963000	Enhancers	Esophagus	oesophagus
11	chr18:11962200-11964400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr18:11962200-11964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:11962200-11965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:11962400-11963000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:11962400-11963000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:11962400-11963000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:11962400-11963000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr18:11962400-11963000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:11962400-11963000	Enhancers	HepG2	liver
20	chr18:11962400-11963000	Enhancers	HMEC	breast
21	chr18:11962400-11963000	Enhancers	NHEK	skin
22	chr18:11962400-11963200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:11962400-11963200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:11962400-11963200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:11962400-11963200	Enhancers	Osteobl	bone
26	chr18:11962400-11963400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:11962400-11964200	Enhancers	K562	blood
28	chr18:11962400-11964600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:11962600-11963000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:11962600-11963000	Enhancers	Colon Smooth Muscle	Colon
31	chr18:11962600-11963400	Enhancers	Brain Angular Gyrus	brain
32	chr18:11962600-11964200	Enhancers	Stomach Smooth Muscle	stomach
33	chr18:11962600-11964600	Enhancers	Rectal Smooth Muscle	rectum
34	chr18:11962600-11964600	Enhancers	A549	lung
35	chr18:11962800-11963000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:11962800-11963200	Enhancers	Brain Hippocampus Middle	brain
37	chr18:11962800-11963400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr18:11962800-11963800	Weak transcription	Fetal Stomach	stomach
39	chr18:11962800-11964200	Enhancers	Hela-S3	cervix

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