Variant report

Variant	rs8087746
Chromosome Location	chr18:7571019-7571020
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	chr18:7566319..7569036-chr18:7569097..7573393,5	K562	blood:

Variant related genes	Relation type
ENSG00000173482	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11872270	1.00[AMR][1000 genomes]
rs11873525	1.00[AMR][1000 genomes]
rs11876591	1.00[AMR][1000 genomes]
rs11877271	1.00[AMR][1000 genomes]
rs16952110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952255	1.00[AMR][1000 genomes]
rs16952270	1.00[AMR][1000 genomes]
rs16952278	1.00[AMR][1000 genomes]
rs7226801	1.00[AMR][1000 genomes]
rs7227163	1.00[AMR][1000 genomes]
rs7227849	1.00[AMR][1000 genomes]
rs7238057	1.00[AMR][1000 genomes]
rs8086288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817574	chr18:6894969-7577149	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv491761	chr18:6973010-7595578	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv909343	chr18:7076836-7578782	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv909345	chr18:7080135-7578782	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv909348	chr18:7279341-7578782	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	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
12	nsv909353	chr18:7479133-7578782	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv909354	chr18:7484216-7578782	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv909355	chr18:7484216-7578782	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv909356	chr18:7493288-7578782	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv909357	chr18:7524275-7578782	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	esv1792935	chr18:7566815-7584667	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7569000-7573000	Weak transcription	Spleen	Spleen
2	chr18:7569000-7573200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:7569400-7572600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:7569400-7572600	Weak transcription	HSMM	muscle
5	chr18:7569400-7572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:7569400-7572800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:7569400-7573000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:7569400-7573000	Weak transcription	Gastric	stomach
9	chr18:7569400-7573000	Weak transcription	Lung	lung
10	chr18:7569400-7573000	Weak transcription	Pancreas	Pancrea
11	chr18:7569400-7573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:7569400-7573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7569400-7575200	Weak transcription	Placenta	Placenta
14	chr18:7569600-7572400	Weak transcription	NH-A	brain
15	chr18:7569600-7572600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:7569600-7572600	Weak transcription	Brain Anterior Caudate	brain
17	chr18:7569600-7572600	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:7569600-7572800	Weak transcription	NHLF	lung
19	chr18:7569600-7575200	Weak transcription	NHEK	skin
20	chr18:7569600-7577800	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:7569600-7577800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr18:7569800-7572200	Weak transcription	Osteobl	bone
23	chr18:7569800-7572400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:7569800-7572600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:7569800-7572600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:7569800-7572600	Weak transcription	NHDF-Ad	bronchial
27	chr18:7569800-7572800	Weak transcription	Fetal Kidney	kidney
28	chr18:7569800-7573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:7569800-7573000	Weak transcription	Aorta	Aorta
30	chr18:7569800-7575600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:7570000-7572800	Weak transcription	Right Ventricle	heart
32	chr18:7570000-7573000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:7570000-7573000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:7570000-7573200	Weak transcription	Fetal Lung	lung
35	chr18:7570200-7571200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:7570200-7571600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:7570200-7572000	Enhancers	A549	lung
38	chr18:7570200-7572400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr18:7570200-7572400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr18:7570200-7572600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:7570200-7572600	Weak transcription	Hela-S3	cervix
42	chr18:7570200-7572600	Weak transcription	HepG2	liver
43	chr18:7570200-7572600	Weak transcription	HMEC	breast
44	chr18:7570200-7573000	Weak transcription	Left Ventricle	heart
45	chr18:7570200-7575200	Weak transcription	Ovary	ovary
46	chr18:7570400-7573000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:7570600-7571200	Weak transcription	Adipose Nuclei	Adipose
48	chr18:7570600-7571400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:7570600-7572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:7570600-7572800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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