Variant report

Variant	rs661450
Chromosome Location	chr18:11983310-11983311
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11951098..11953868-chr18:11983215..11985135,2	K562	blood:
2	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
3	chr18:11945202..11946852-chr18:11982600..11984410,2	K562	blood:
4	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154889	Chromatin interaction
ENSG00000266955	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 36 )
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	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59082529	0.91[ASN][1000 genomes]
rs610541	1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs679246	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7244659	1.00[ASN][1000 genomes]
rs8087838	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091268	1.00[ASN][1000 genomes]
rs9950799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960943	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr18:11980600-11983400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr18:11980800-11983800	Active TSS	Pancreas	Pancrea
4	chr18:11981800-11983800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:11982000-11983400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr18:11982000-11983800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr18:11982200-11983400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr18:11982200-11984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr18:11982400-11983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:11982400-11983600	Weak transcription	Spleen	Spleen
11	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
12	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
14	chr18:11982600-11983400	Bivalent Enhancer	Dnd41	blood
15	chr18:11982600-11983600	Weak transcription	Right Ventricle	heart
16	chr18:11982600-11983800	Weak transcription	Lung	lung
17	chr18:11982600-11984000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:11982600-11984000	Active TSS	Stomach Smooth Muscle	stomach
19	chr18:11982600-11984200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:11982600-11984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:11982600-11984200	Enhancers	Adipose Nuclei	Adipose
22	chr18:11982600-11984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:11982600-11984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:11982600-11984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:11982600-11984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:11982600-11984400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:11982600-11984400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr18:11982600-11984400	Enhancers	Fetal Muscle Leg	muscle
29	chr18:11982600-11984400	Enhancers	Gastric	stomach
30	chr18:11982600-11985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
32	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
33	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:11982600-11987800	Weak transcription	NHLF	lung
35	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
36	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
37	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
38	chr18:11982800-11983400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:11982800-11983400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr18:11982800-11983400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:11982800-11983400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr18:11982800-11983400	Enhancers	Colon Smooth Muscle	Colon
43	chr18:11982800-11983400	Flanking Active TSS	Placenta	Placenta
44	chr18:11982800-11983600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr18:11982800-11983800	Flanking Active TSS	Fetal Stomach	stomach
46	chr18:11982800-11984000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr18:11982800-11984200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr18:11982800-11984200	Flanking Active TSS	HepG2	liver
49	chr18:11982800-11984200	Flanking Active TSS	NHEK	skin
50	chr18:11982800-11984400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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