Variant report

Variant	rs73381875
Chromosome Location	chr18:7959576-7959577
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs60950392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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:53 , 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	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
4	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
7	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
8	chr18:7948000-7959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
12	chr18:7951200-7963400	Weak transcription	Adipose Nuclei	Adipose
13	chr18:7951600-7965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:7954400-7966000	Weak transcription	Fetal Kidney	kidney
15	chr18:7955400-7965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:7955600-7962000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:7955600-7962400	Weak transcription	Psoas Muscle	Psoas
18	chr18:7955600-7963400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:7956000-7965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:7956000-7966200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
22	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
23	chr18:7956200-7962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:7956800-7959800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:7957400-7960000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:7957600-7965200	Weak transcription	Lung	lung
27	chr18:7957600-7980600	Weak transcription	Right Ventricle	heart
28	chr18:7958400-7959800	Enhancers	Small Intestine	intestine
29	chr18:7958600-7963200	Weak transcription	Brain Anterior Caudate	brain
30	chr18:7958800-7963400	Weak transcription	Aorta	Aorta
31	chr18:7959000-7959600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:7959000-7960000	Enhancers	A549	lung
33	chr18:7959000-7960000	Enhancers	Hela-S3	cervix
34	chr18:7959000-7963200	Weak transcription	Right Atrium	heart
35	chr18:7959000-7963600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr18:7959000-7963800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:7959000-7964200	Weak transcription	NHDF-Ad	bronchial
38	chr18:7959000-7987400	Weak transcription	Ovary	ovary
39	chr18:7959200-7959600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr18:7959200-7959600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:7959200-7959600	Enhancers	HUVEC	blood vessel
42	chr18:7959200-7959600	Enhancers	NHLF	lung
43	chr18:7959200-7959600	Enhancers	Osteobl	bone
44	chr18:7959200-7959800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr18:7959200-7959800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr18:7959200-7963800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:7959200-7963800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:7959200-7982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:7959400-7959600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:7959400-7959600	Enhancers	HSMM	muscle

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