Variant report

Variant	rs28728381
Chromosome Location	chr18:7615344-7615345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7611758..7613700-chr18:7613892..7616475,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10502358	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952213	1.00[AMR][1000 genomes]
rs2105669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402175	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6506522	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7226532	1.00[AMR][1000 genomes]
rs7230088	1.00[AMR][1000 genomes]
rs7236112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9945442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957180	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9960156	0.83[AFR][1000 genomes];0.83[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7608400-7617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:7608800-7618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr18:7609200-7617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:7609800-7615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:7609800-7615400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:7609800-7615400	Weak transcription	Lung	lung
7	chr18:7609800-7615400	Weak transcription	Spleen	Spleen
8	chr18:7610000-7615400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:7610000-7615400	Weak transcription	Adipose Nuclei	Adipose
10	chr18:7610000-7615400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:7610000-7615400	Weak transcription	Right Atrium	heart
12	chr18:7610000-7615400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:7610000-7616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:7610000-7616000	Weak transcription	Ovary	ovary
15	chr18:7610000-7616400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:7610000-7616400	Weak transcription	NH-A	brain
17	chr18:7610000-7617600	Weak transcription	Aorta	Aorta
18	chr18:7611000-7615400	Weak transcription	NHDF-Ad	bronchial
19	chr18:7613200-7616400	Weak transcription	Psoas Muscle	Psoas
20	chr18:7613200-7617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:7613600-7615400	Weak transcription	Left Ventricle	heart
22	chr18:7613600-7616400	Weak transcription	Gastric	stomach
23	chr18:7613800-7615400	Weak transcription	Fetal Muscle Leg	muscle
24	chr18:7613800-7615400	Weak transcription	Pancreas	Pancrea
25	chr18:7614000-7620400	Enhancers	Fetal Lung	lung
26	chr18:7614200-7617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:7614600-7619600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr18:7614800-7615400	Weak transcription	Right Ventricle	heart
29	chr18:7614800-7616200	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:7614800-7617200	Weak transcription	Fetal Kidney	kidney
31	chr18:7615000-7616000	Weak transcription	A549	lung
32	chr18:7615000-7616000	Weak transcription	HepG2	liver
33	chr18:7615200-7615800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:7615200-7617800	Enhancers	Fetal Heart	heart
35	chr18:7615200-7619400	Enhancers	Skeletal Muscle Female	skeletal muscle

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