Variant report

Variant	rs28558612
Chromosome Location	chr18:7613339-7613340
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	chr18:7606732..7608524-chr18:7612003..7613987,2	K562	blood:
2	chr18:7611758..7613700-chr18:7613892..7616475,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1893223	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941136	0.83[EUR][1000 genomes]
rs1941137	0.87[ASN][1000 genomes]
rs1941138	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1941141	0.93[ASN][1000 genomes]
rs4798571	0.88[EUR][1000 genomes]
rs4798573	0.86[EUR][1000 genomes]
rs524833	0.85[EUR][1000 genomes]
rs6506519	0.80[AMR][1000 genomes]
rs7233631	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8086999	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098234	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9949194	0.91[ASN][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7608200-7614200	Weak transcription	Fetal Kidney	kidney
2	chr18:7608400-7617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:7608800-7614000	Weak transcription	Fetal Lung	lung
4	chr18:7608800-7618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:7609200-7614000	Weak transcription	A549	lung
6	chr18:7609200-7617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:7609400-7614000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:7609400-7614200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr18:7609800-7615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:7609800-7615400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr18:7609800-7615400	Weak transcription	Lung	lung
12	chr18:7609800-7615400	Weak transcription	Spleen	Spleen
13	chr18:7610000-7614200	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:7610000-7615200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:7610000-7615400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:7610000-7615400	Weak transcription	Adipose Nuclei	Adipose
17	chr18:7610000-7615400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:7610000-7615400	Weak transcription	Right Atrium	heart
19	chr18:7610000-7615400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:7610000-7616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:7610000-7616000	Weak transcription	Ovary	ovary
22	chr18:7610000-7616400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:7610000-7616400	Weak transcription	NH-A	brain
24	chr18:7610000-7617600	Weak transcription	Aorta	Aorta
25	chr18:7611000-7614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:7611000-7615400	Weak transcription	NHDF-Ad	bronchial
27	chr18:7612800-7613600	Enhancers	Gastric	stomach
28	chr18:7612800-7613600	Enhancers	Left Ventricle	heart
29	chr18:7613200-7613600	Weak transcription	Fetal Muscle Leg	muscle
30	chr18:7613200-7613600	Weak transcription	Pancreas	Pancrea
31	chr18:7613200-7614200	Weak transcription	Fetal Heart	heart
32	chr18:7613200-7614600	Weak transcription	Right Ventricle	heart
33	chr18:7613200-7616400	Weak transcription	Psoas Muscle	Psoas
34	chr18:7613200-7617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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