Variant report

Variant	rs28378304
Chromosome Location	chr18:7618095-7618096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10468770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59122883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61288642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383637	0.83[AMR][1000 genomes]
rs73383666	0.83[AMR][1000 genomes]
rs73385360	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
4	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7608800-7618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr18:7614000-7620400	Enhancers	Fetal Lung	lung
3	chr18:7614600-7619600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr18:7615200-7619400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr18:7615400-7619400	Enhancers	Adipose Nuclei	Adipose
6	chr18:7616000-7618200	Enhancers	HepG2	liver
7	chr18:7616600-7618200	Enhancers	NHEK	skin
8	chr18:7616600-7620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7617000-7618200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:7617000-7618800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:7617000-7619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:7617000-7619600	Weak transcription	Esophagus	oesophagus
13	chr18:7617000-7619600	Weak transcription	Fetal Stomach	stomach
14	chr18:7617000-7619600	Weak transcription	Lung	lung
15	chr18:7617000-7619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:7617000-7620400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:7617000-7622600	Weak transcription	Pancreas	Pancrea
18	chr18:7617000-7624600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:7617000-7626200	Weak transcription	Ovary	ovary
20	chr18:7617200-7618800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:7617200-7620000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:7617200-7620400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:7617400-7618400	Active TSS	NHDF-Ad	bronchial
24	chr18:7617400-7618600	Weak transcription	Brain Substantia Nigra	brain
25	chr18:7617400-7618800	Flanking Active TSS	Osteobl	bone
26	chr18:7617400-7619200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:7617600-7618200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:7617600-7618200	Flanking Active TSS	Liver	Liver
29	chr18:7617600-7618400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr18:7617600-7618400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:7617600-7618600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:7617600-7618800	Active TSS	Aorta	Aorta
33	chr18:7617600-7618800	Enhancers	Left Ventricle	heart
34	chr18:7617600-7619000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:7617600-7619200	Flanking Active TSS	NH-A	brain
36	chr18:7617600-7619400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr18:7617600-7620600	Enhancers	Psoas Muscle	Psoas
38	chr18:7617800-7618200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr18:7617800-7618200	Enhancers	Fetal Brain Female	brain
40	chr18:7617800-7618200	Flanking Active TSS	Fetal Heart	heart
41	chr18:7617800-7618200	Flanking Active TSS	A549	lung
42	chr18:7617800-7618200	Active TSS	NHLF	lung
43	chr18:7617800-7618400	Active TSS	Stomach Smooth Muscle	stomach
44	chr18:7617800-7618600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:7617800-7619000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:7617800-7619400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr18:7617800-7619400	Bivalent Enhancer	Fetal Brain Male	brain
48	chr18:7617800-7620000	Enhancers	HSMMtube	muscle
49	chr18:7617800-7620600	Enhancers	Fetal Muscle Leg	muscle
50	chr18:7618000-7618200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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