Variant report

Variant	rs16976875
Chromosome Location	chr18:11983014-11983015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1662602	0.88[ASN][1000 genomes]
rs16976886	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2360082	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28377581	0.87[ASN][1000 genomes]
rs28482939	0.86[ASN][1000 genomes]
rs28561563	0.84[ASN][1000 genomes]
rs28673951	0.84[ASN][1000 genomes]
rs3786305	0.88[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3865368	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41491746	0.85[JPT][hapmap]
rs4455029	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4797605	0.87[ASN][1000 genomes]
rs584373	0.84[ASN][1000 genomes]
rs585247	0.87[ASN][1000 genomes]
rs619671	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs62097455	0.82[ASN][1000 genomes]
rs73945297	0.95[ASN][1000 genomes]
rs8098914	0.85[ASN][1000 genomes]
rs971363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11980000-11983200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:11980000-11983200	Active TSS	Psoas Muscle	Psoas
3	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr18:11980400-11983200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr18:11980400-11983200	Active TSS	Esophagus	oesophagus
6	chr18:11980600-11983200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:11980600-11983400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr18:11980800-11983800	Active TSS	Pancreas	Pancrea
9	chr18:11981600-11983200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:11981800-11983200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr18:11981800-11983800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:11982000-11983400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr18:11982000-11983800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr18:11982200-11983200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:11982200-11983400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr18:11982200-11984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr18:11982400-11983200	Enhancers	Brain Angular Gyrus	brain
18	chr18:11982400-11983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:11982400-11983600	Weak transcription	Spleen	Spleen
20	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
21	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
23	chr18:11982600-11983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:11982600-11983200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:11982600-11983200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:11982600-11983200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:11982600-11983200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:11982600-11983200	Enhancers	Brain Anterior Caudate	brain
29	chr18:11982600-11983200	Enhancers	HSMMtube	muscle
30	chr18:11982600-11983400	Bivalent Enhancer	Dnd41	blood
31	chr18:11982600-11983600	Weak transcription	Right Ventricle	heart
32	chr18:11982600-11983800	Weak transcription	Lung	lung
33	chr18:11982600-11984000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:11982600-11984000	Active TSS	Stomach Smooth Muscle	stomach
35	chr18:11982600-11984200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:11982600-11984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:11982600-11984200	Enhancers	Adipose Nuclei	Adipose
38	chr18:11982600-11984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:11982600-11984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:11982600-11984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr18:11982600-11984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:11982600-11984400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:11982600-11984400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:11982600-11984400	Enhancers	Fetal Muscle Leg	muscle
45	chr18:11982600-11984400	Enhancers	Gastric	stomach
46	chr18:11982600-11985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
48	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
49	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr18:11982600-11987800	Weak transcription	NHLF	lung

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