Variant report

Variant	rs16952719
Chromosome Location	chr18:7957473-7957474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7953033..7955520-chr18:7955662..7957889,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16952665	0.83[AMR][1000 genomes]
rs16952669	0.83[AMR][1000 genomes]
rs16952673	0.83[AMR][1000 genomes]
rs16952732	1.00[AMR][1000 genomes]
rs2187185	1.00[YRI][hapmap]
rs57058858	0.83[AMR][1000 genomes]
rs7238210	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8084245	0.83[AMR][1000 genomes]
rs8088494	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8090607	0.83[AMR][1000 genomes]
rs8098105	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8099263	1.00[AMR][1000 genomes]
rs948778	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
4	chr18:7947200-7958200	Weak transcription	Colon Smooth Muscle	Colon
5	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
6	chr18:7947400-7958200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr18:7947400-7958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7947400-7959200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
12	chr18:7947600-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:7947800-7958400	Weak transcription	Brain Anterior Caudate	brain
14	chr18:7947800-7958400	Weak transcription	Gastric	stomach
15	chr18:7947800-7958600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
17	chr18:7948000-7959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
21	chr18:7951000-7958600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr18:7951200-7958000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:7951200-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:7951200-7963400	Weak transcription	Adipose Nuclei	Adipose
25	chr18:7951600-7958400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:7951600-7965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:7953600-7958800	Weak transcription	Fetal Heart	heart
28	chr18:7953800-7958400	Enhancers	Hela-S3	cervix
29	chr18:7954400-7958200	Weak transcription	NHDF-Ad	bronchial
30	chr18:7954400-7966000	Weak transcription	Fetal Kidney	kidney
31	chr18:7955000-7957800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:7955000-7958200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:7955000-7958200	Weak transcription	Osteobl	bone
34	chr18:7955000-7958400	Weak transcription	NH-A	brain
35	chr18:7955200-7958200	Weak transcription	HUVEC	blood vessel
36	chr18:7955200-7958200	Weak transcription	NHLF	lung
37	chr18:7955400-7958200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:7955400-7958400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:7955400-7965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:7955600-7958200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:7955600-7958400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr18:7955600-7962000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr18:7955600-7962400	Weak transcription	Psoas Muscle	Psoas
44	chr18:7955600-7963400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:7955800-7958400	Weak transcription	Ovary	ovary
46	chr18:7956000-7958400	Weak transcription	Fetal Intestine Large	intestine
47	chr18:7956000-7965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:7956000-7966200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
50	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle

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