Variant report

Variant	rs16961206
Chromosome Location	chr18:28677703-28677704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr18:28677646-28677954	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr18:28677634-28677953	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28673286..28674981-chr18:28675975..28678239,2	K562	blood:

Variant related genes	Relation type
ENSG00000265888	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11874340	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11874411	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11874916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11876103	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11877259	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16961253	0.82[EUR][1000 genomes]
rs16961254	0.82[EUR][1000 genomes]
rs16961256	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16961326	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16961328	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16961331	0.82[EUR][1000 genomes]
rs16961333	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1816634	0.82[EUR][1000 genomes]
rs2156495	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2156761	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28379393	0.94[EUR][1000 genomes]
rs58689925	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58911015	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59270371	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59683603	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6506883	1.00[EUR][1000 genomes]
rs7233226	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7235130	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7244822	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73415516	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415572	0.82[EUR][1000 genomes]
rs73415573	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73415585	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73421614	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73421636	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73421639	0.82[EUR][1000 genomes]
rs73954506	0.91[EUR][1000 genomes]
rs73954515	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8086137	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8086813	1.00[EUR][1000 genomes]
rs985861	0.82[EUR][1000 genomes]
rs985862	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9957742	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
2	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:28647000-28679400	Weak transcription	Fetal Kidney	kidney
4	chr18:28648600-28678800	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:28649200-28680800	Weak transcription	Gastric	stomach
6	chr18:28649400-28679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:28652800-28679800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:28654200-28679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:28654200-28679800	Weak transcription	Lung	lung
10	chr18:28654200-28679800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:28656600-28680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:28657400-28679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:28660800-28679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:28660800-28679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:28663000-28679200	Weak transcription	Colonic Mucosa	Colon
16	chr18:28666800-28679800	Weak transcription	Esophagus	oesophagus
17	chr18:28667600-28678800	Weak transcription	HMEC	breast
18	chr18:28667800-28679400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:28669600-28680000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:28671000-28679600	Weak transcription	Adipose Nuclei	Adipose
21	chr18:28671600-28678600	Weak transcription	K562	blood
22	chr18:28672000-28680200	Weak transcription	Brain Anterior Caudate	brain
23	chr18:28672600-28679000	Weak transcription	Fetal Heart	heart
24	chr18:28672600-28679800	Weak transcription	Placenta	Placenta
25	chr18:28672800-28680000	Weak transcription	Liver	Liver
26	chr18:28673400-28678600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr18:28673400-28678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:28673400-28679800	Weak transcription	Left Ventricle	heart
29	chr18:28673600-28677800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr18:28673600-28678600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:28673600-28678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr18:28673600-28679000	Weak transcription	NHEK	skin
33	chr18:28673600-28679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:28673600-28679600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:28673600-28679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:28673600-28679800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr18:28673600-28679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:28674200-28678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:28674200-28679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:28674200-28679800	Weak transcription	Right Atrium	heart
41	chr18:28675400-28679600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:28675400-28679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr18:28675400-28679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:28675400-28679800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:28675600-28678800	Weak transcription	HepG2	liver
46	chr18:28675600-28679600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr18:28676000-28679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:28676200-28679800	Enhancers	Fetal Intestine Large	intestine
49	chr18:28676600-28678400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr18:28676600-28679800	Weak transcription	Pancreas	Pancrea

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