Variant report

Variant	rs73941943
Chromosome Location	chr18:7600256-7600257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55961656	0.88[AFR][1000 genomes]
rs73939304	0.93[AFR][1000 genomes]
rs73939307	1.00[AFR][1000 genomes]
rs73941941	0.86[AFR][1000 genomes]
rs73941945	1.00[AFR][1000 genomes]
rs73941950	1.00[AFR][1000 genomes]
rs8091609	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7580600-7600800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:7585000-7600600	Weak transcription	Spleen	Spleen
3	chr18:7586400-7607600	Weak transcription	Aorta	Aorta
4	chr18:7591400-7600400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:7591600-7603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:7592800-7603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:7595400-7600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7596400-7600600	Weak transcription	NH-A	brain
9	chr18:7596400-7600800	Weak transcription	NHDF-Ad	bronchial
10	chr18:7596400-7603400	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:7596400-7603400	Weak transcription	Pancreas	Pancrea
12	chr18:7596400-7603600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:7596600-7601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:7598200-7600800	Enhancers	Adipose Nuclei	Adipose
15	chr18:7598600-7603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:7599000-7601000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:7599200-7600600	Enhancers	Fetal Lung	lung
18	chr18:7599200-7600800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:7599200-7600800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr18:7599200-7601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:7599200-7601400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr18:7599400-7600800	Enhancers	Fetal Heart	heart
23	chr18:7599400-7601600	Enhancers	Right Atrium	heart
24	chr18:7599400-7601800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:7599400-7602600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:7599400-7605000	Enhancers	Left Ventricle	heart
27	chr18:7599600-7601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:7599600-7601000	Weak transcription	Osteobl	bone
29	chr18:7599600-7601400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:7599600-7601400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:7599600-7602200	Enhancers	Lung	lung
32	chr18:7599600-7602200	Enhancers	Right Ventricle	heart
33	chr18:7599600-7602400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:7599800-7600400	Enhancers	Fetal Brain Female	brain
35	chr18:7599800-7600600	ZNF genes & repeats	Fetal Brain Male	brain
36	chr18:7599800-7600800	Enhancers	Brain Anterior Caudate	brain
37	chr18:7599800-7601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:7599800-7601000	Enhancers	Placenta	Placenta
39	chr18:7599800-7601000	Enhancers	HepG2	liver
40	chr18:7599800-7601200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr18:7599800-7602200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:7599800-7602400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:7599800-7602800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr18:7600000-7600400	Weak transcription	Gastric	stomach
45	chr18:7600000-7601000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr18:7600000-7602200	Strong transcription	A549	lung
47	chr18:7600000-7603400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr18:7600000-7605600	Weak transcription	Ovary	ovary
49	chr18:7600200-7600400	Enhancers	Small Intestine	intestine
50	chr18:7600200-7600800	Enhancers	H1 Cell Line	embryonic stem cell

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