Variant report

Variant	rs8087838
Chromosome Location	chr18:11982417-11982418
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
2	chr18:11905898..11908508-chr18:11980358..11982828,3	K562	blood:
3	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
4	chr18:11851619..11853678-chr18:11981084..11983023,2	MCF-7	breast:
5	chr18:11981635..11982452-chr8:37962701..37963302,2	Hela-S3	cervix:
6	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
7	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
8	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:

No data

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11659317	1.00[ASN][1000 genomes]
rs17593321	0.90[ASN][1000 genomes]
rs1787983	1.00[ASN][1000 genomes]
rs1787986	1.00[ASN][1000 genomes]
rs2586219	1.00[ASN][1000 genomes]
rs2848459	1.00[ASN][1000 genomes]
rs2849407	1.00[ASN][1000 genomes]
rs3889500	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59082529	0.91[ASN][1000 genomes]
rs610541	1.00[ASN][1000 genomes]
rs611930	1.00[ASN][1000 genomes]
rs612854	1.00[ASN][1000 genomes]
rs62099883	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62099884	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62099886	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62099887	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62099888	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62099891	0.82[EUR][1000 genomes]
rs62099892	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62099914	0.90[ASN][1000 genomes]
rs62099915	0.90[ASN][1000 genomes]
rs661450	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679246	1.00[ASN][1000 genomes]
rs7244659	1.00[ASN][1000 genomes]
rs8091268	1.00[ASN][1000 genomes]
rs9950799	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960943	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:119 , 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	chr18:11980200-11982600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:11980200-11982600	Active TSS	Colon Smooth Muscle	Colon
6	chr18:11980200-11982600	Active TSS	Right Ventricle	heart
7	chr18:11980200-11982800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr18:11980200-11982800	Active TSS	A549	lung
9	chr18:11980200-11983000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr18:11980200-11983000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:11980200-11983000	Active TSS	Fetal Kidney	kidney
12	chr18:11980200-11983000	Active TSS	Left Ventricle	heart
13	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr18:11980400-11982600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:11980400-11982600	Active TSS	HSMM	muscle
16	chr18:11980400-11982800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr18:11980400-11982800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr18:11980400-11982800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr18:11980400-11982800	Active TSS	HepG2	liver
20	chr18:11980400-11983000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr18:11980400-11983000	Active TSS	Fetal Intestine Large	intestine
22	chr18:11980400-11983200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr18:11980400-11983200	Active TSS	Esophagus	oesophagus
24	chr18:11980600-11982600	Active TSS	NHDF-Ad	bronchial
25	chr18:11980600-11982600	Active TSS	Osteobl	bone
26	chr18:11980600-11982800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:11980600-11982800	Active TSS	Hela-S3	cervix
28	chr18:11980600-11983000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr18:11980600-11983000	Active TSS	Liver	Liver
30	chr18:11980600-11983200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:11980600-11983400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr18:11980800-11982600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:11980800-11982600	Active TSS	Colonic Mucosa	Colon
34	chr18:11980800-11982600	Active TSS	HMEC	breast
35	chr18:11980800-11982600	Active TSS	NHLF	lung
36	chr18:11980800-11982800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:11980800-11983000	Active TSS	Duodenum Mucosa	Duodenum
38	chr18:11980800-11983800	Active TSS	Pancreas	Pancrea
39	chr18:11981400-11982600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr18:11981400-11983000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr18:11981600-11982600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:11981600-11982600	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr18:11981600-11983000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr18:11981600-11983200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:11981800-11982600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr18:11981800-11982600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr18:11981800-11982600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr18:11981800-11982600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr18:11981800-11982600	Active TSS	Right Atrium	heart
50	chr18:11981800-11983200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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