Variant report

Variant	rs61288642
Chromosome Location	chr18:7616887-7616888
allele	A/G
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]
rs28378304	1.00[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]
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:52 , 50 per page) page: 1 2

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	chr18:7610000-7617600	Weak transcription	Aorta	Aorta
5	chr18:7613200-7617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:7614000-7620400	Enhancers	Fetal Lung	lung
7	chr18:7614200-7617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:7614600-7619600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr18:7614800-7617200	Weak transcription	Fetal Kidney	kidney
10	chr18:7615200-7617800	Enhancers	Fetal Heart	heart
11	chr18:7615200-7619400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:7615400-7617000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7615400-7617000	Enhancers	Fetal Muscle Trunk	muscle
14	chr18:7615400-7617000	Enhancers	Fetal Muscle Leg	muscle
15	chr18:7615400-7617000	Enhancers	Lung	lung
16	chr18:7615400-7617000	Enhancers	Pancreas	Pancrea
17	chr18:7615400-7617000	Enhancers	Spleen	Spleen
18	chr18:7615400-7617200	Enhancers	Left Ventricle	heart
19	chr18:7615400-7617200	Enhancers	NHDF-Ad	bronchial
20	chr18:7615400-7617400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:7615400-7617600	Enhancers	Right Atrium	heart
22	chr18:7615400-7617600	Enhancers	Right Ventricle	heart
23	chr18:7615400-7617600	Enhancers	Stomach Smooth Muscle	stomach
24	chr18:7615400-7619400	Enhancers	Adipose Nuclei	Adipose
25	chr18:7616000-7617000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:7616000-7617000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:7616000-7617000	Enhancers	Ovary	ovary
28	chr18:7616000-7617200	Enhancers	A549	lung
29	chr18:7616000-7618200	Enhancers	HepG2	liver
30	chr18:7616200-7617200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:7616200-7617600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:7616400-7617000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:7616400-7617000	Enhancers	Gastric	stomach
34	chr18:7616400-7617000	Enhancers	NHLF	lung
35	chr18:7616400-7617200	Enhancers	Psoas Muscle	Psoas
36	chr18:7616400-7617400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:7616400-7617600	Enhancers	NH-A	brain
38	chr18:7616400-7617800	Enhancers	Rectal Smooth Muscle	rectum
39	chr18:7616600-7617000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr18:7616600-7617200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:7616600-7617400	Enhancers	Osteobl	bone
42	chr18:7616600-7617600	Enhancers	HMEC	breast
43	chr18:7616600-7618200	Enhancers	NHEK	skin
44	chr18:7616600-7620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:7616800-7617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr18:7616800-7617000	Enhancers	Esophagus	oesophagus
47	chr18:7616800-7617000	Enhancers	Fetal Stomach	stomach
48	chr18:7616800-7617200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr18:7616800-7617400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:7616800-7617600	Enhancers	Liver	Liver

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