Variant report

Variant	rs60950392
Chromosome Location	chr18:7956148-7956149
allele	A/G
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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1443601	1.00[EUR][1000 genomes]
rs28714420	0.86[EUR][1000 genomes]
rs7230992	0.83[AFR][1000 genomes]
rs7237788	0.88[AFR][1000 genomes]
rs73381829	0.86[EUR][1000 genomes]
rs73381838	0.86[EUR][1000 genomes]
rs73381850	0.83[AFR][1000 genomes]
rs73381854	0.94[AFR][1000 genomes]
rs73381856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381859	0.83[AFR][1000 genomes]
rs73381860	0.83[AFR][1000 genomes]
rs73381865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381869	1.00[AFR][1000 genomes]
rs73381871	0.88[AFR][1000 genomes]
rs73381875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381878	0.88[AFR][1000 genomes]
rs73381880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092268	0.86[EUR][1000 genomes]
rs9949799	1.00[EUR][1000 genomes]
rs9964734	0.86[EUR][1000 genomes]
rs9972988	1.00[EUR][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:71 , 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	chr18:7947600-7956600	Weak transcription	Brain Hippocampus Middle	brain
13	chr18:7947600-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:7947800-7957000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr18:7947800-7957400	Weak transcription	Spleen	Spleen
16	chr18:7947800-7958400	Weak transcription	Brain Anterior Caudate	brain
17	chr18:7947800-7958400	Weak transcription	Gastric	stomach
18	chr18:7947800-7958600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
20	chr18:7948000-7956600	Weak transcription	Lung	lung
21	chr18:7948000-7957000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:7948000-7959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
26	chr18:7950800-7956200	Weak transcription	Fetal Intestine Small	intestine
27	chr18:7951000-7958600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr18:7951200-7958000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:7951200-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:7951200-7963400	Weak transcription	Adipose Nuclei	Adipose
31	chr18:7951400-7956600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:7951600-7958400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:7951600-7965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7953600-7958800	Weak transcription	Fetal Heart	heart
35	chr18:7953800-7958400	Enhancers	Hela-S3	cervix
36	chr18:7954000-7956600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:7954200-7957400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr18:7954200-7957400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:7954200-7957400	Weak transcription	GM12878-XiMat	blood
40	chr18:7954400-7956800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr18:7954400-7958200	Weak transcription	NHDF-Ad	bronchial
42	chr18:7954400-7966000	Weak transcription	Fetal Kidney	kidney
43	chr18:7955000-7956200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:7955000-7957800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:7955000-7958200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr18:7955000-7958200	Weak transcription	Osteobl	bone
47	chr18:7955000-7958400	Weak transcription	NH-A	brain
48	chr18:7955200-7958200	Weak transcription	HUVEC	blood vessel
49	chr18:7955200-7958200	Weak transcription	NHLF	lung
50	chr18:7955400-7956200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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