Variant report

Variant	rs16976857
Chromosome Location	chr18:11948069-11948070
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: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	chr18:11947643..11949972-chr18:11979673..11983782,3	MCF-7	breast:
2	chr18:11908313..11910629-chr18:11947415..11948984,2	K562	blood:
3	chr18:11908313..11910422-chr18:11947484..11949382,3	K562	blood:
4	chr18:11945871..11949775-chr18:11972448..11976477,3	K562	blood:
5	chr18:11944456..11952400-chr18:11978684..11982486,15	K562	blood:
6	chr18:11938000..11939656-chr18:11946087..11948724,2	K562	blood:
7	chr18:11945775..11953098-chr18:11977697..11982837,16	K562	blood:
8	chr18:11927997..11930119-chr18:11947025..11949213,2	K562	blood:
9	chr18:11907115..11909589-chr18:11947697..11950690,2	MCF-7	breast:
10	chr18:11946068..11950381-chr18:11979395..11982010,5	MCF-7	breast:
11	chr18:11947580..11949116-chr18:11949691..11952333,2	K562	blood:
12	chr18:11947304..11948125-chr18:11981391..11982015,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000267661	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11873137	1.00[EUR][1000 genomes]
rs11873851	1.00[EUR][1000 genomes]
rs28540878	1.00[EUR][1000 genomes]
rs28717042	1.00[EUR][1000 genomes]
rs28841406	1.00[EUR][1000 genomes]
rs7235545	1.00[EUR][1000 genomes]
rs7238118	1.00[EUR][1000 genomes]
rs7243995	1.00[EUR][1000 genomes]
rs73947246	1.00[EUR][1000 genomes]
rs8086270	1.00[EUR][1000 genomes]
rs9960082	1.00[EUR][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11946200-11948400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr18:11946600-11948200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:11946600-11948200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr18:11946600-11948200	Flanking Active TSS	Osteobl	bone
5	chr18:11946600-11948400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:11946800-11948200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr18:11946800-11948200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:11946800-11948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:11946800-11948200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:11946800-11948200	Active TSS	Ovary	ovary
11	chr18:11946800-11948400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr18:11946800-11948400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:11947000-11948200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr18:11947000-11948200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:11947000-11948200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:11947000-11948200	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr18:11947000-11948200	Active TSS	Liver	Liver
18	chr18:11947000-11948200	Active TSS	Brain Hippocampus Middle	brain
19	chr18:11947000-11948200	Active TSS	Brain Substantia Nigra	brain
20	chr18:11947000-11948200	Active TSS	Colon Smooth Muscle	Colon
21	chr18:11947000-11948200	Flanking Active TSS	HUVEC	blood vessel
22	chr18:11947000-11948400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:11947000-11948400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr18:11947000-11948400	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr18:11947200-11948200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr18:11947200-11948200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr18:11947200-11948200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr18:11947200-11948200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:11947200-11948200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:11947200-11948200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:11947200-11948200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr18:11947200-11948200	Active TSS	Colonic Mucosa	Colon
33	chr18:11947200-11948200	Active TSS	Duodenum Mucosa	Duodenum
34	chr18:11947200-11948200	Active TSS	Fetal Intestine Small	intestine
35	chr18:11947200-11948200	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr18:11947200-11948200	Active TSS	Left Ventricle	heart
37	chr18:11947200-11948200	Active TSS	Right Ventricle	heart
38	chr18:11947200-11948200	Active TSS	Hela-S3	cervix
39	chr18:11947200-11948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr18:11947200-11948400	Active TSS	Brain Anterior Caudate	brain
41	chr18:11947200-11948400	Active TSS	Fetal Intestine Large	intestine
42	chr18:11947400-11948200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:11947400-11948200	Active TSS	Aorta	Aorta
44	chr18:11947400-11948200	Active TSS	Fetal Brain Female	brain
45	chr18:11947400-11948200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr18:11947400-11948200	Active TSS	Small Intestine	intestine
47	chr18:11947600-11948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr18:11947600-11948200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:11947600-11948200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:11947600-11948200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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