Variant report

Variant	rs9946371
Chromosome Location	chr18:7598966-7598967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16952302	1.00[AMR][1000 genomes]
rs57233839	1.00[AMR][1000 genomes]
rs7230519	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941936	1.00[AMR][1000 genomes]
rs73941937	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099533	0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949661	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953865	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][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:43 , 50 per page) page: 1

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	chr18:7585400-7600000	Weak transcription	A549	lung
4	chr18:7586400-7607600	Weak transcription	Aorta	Aorta
5	chr18:7591400-7599800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:7591400-7600400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:7591600-7599800	Weak transcription	Brain Anterior Caudate	brain
8	chr18:7591600-7603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:7592800-7600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr18:7592800-7603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:7593000-7599600	Weak transcription	Lung	lung
12	chr18:7593800-7599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:7595400-7600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:7596200-7600200	Weak transcription	Small Intestine	intestine
15	chr18:7596400-7599000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:7596400-7599600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:7596400-7599800	Weak transcription	Gastric	stomach
18	chr18:7596400-7600200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:7596400-7600600	Weak transcription	NH-A	brain
20	chr18:7596400-7600800	Weak transcription	NHDF-Ad	bronchial
21	chr18:7596400-7603400	Weak transcription	Colon Smooth Muscle	Colon
22	chr18:7596400-7603400	Weak transcription	Pancreas	Pancrea
23	chr18:7596400-7603600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:7596600-7601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:7597200-7599600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:7597200-7599600	Weak transcription	Psoas Muscle	Psoas
27	chr18:7597200-7599800	Weak transcription	HepG2	liver
28	chr18:7597400-7599400	Weak transcription	Fetal Heart	heart
29	chr18:7597400-7599400	Weak transcription	Left Ventricle	heart
30	chr18:7597400-7599400	Weak transcription	Right Atrium	heart
31	chr18:7597600-7599200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr18:7597600-7599400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:7597600-7599400	Weak transcription	Ovary	ovary
34	chr18:7597600-7599600	Weak transcription	Right Ventricle	heart
35	chr18:7598000-7599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:7598200-7599200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr18:7598200-7600800	Enhancers	Adipose Nuclei	Adipose
38	chr18:7598400-7599600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:7598400-7599600	Enhancers	Osteobl	bone
40	chr18:7598600-7599200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:7598600-7599600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr18:7598600-7603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:7598800-7599200	Active TSS	Fetal Lung	lung

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