Variant report

Variant	rs521237
Chromosome Location	chr18:8141169-8141170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11874504	1.00[EUR][1000 genomes]
rs16952952	1.00[EUR][1000 genomes]
rs2058469	1.00[EUR][1000 genomes]
rs2058470	1.00[EUR][1000 genomes]
rs2098265	1.00[EUR][1000 genomes]
rs4121769	1.00[EUR][1000 genomes]
rs552322	0.87[EUR][1000 genomes]
rs626707	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs722021	1.00[EUR][1000 genomes]
rs722022	1.00[EUR][1000 genomes]
rs7230799	1.00[EUR][1000 genomes]
rs7236897	1.00[EUR][1000 genomes]
rs73389727	1.00[EUR][1000 genomes]
rs73389728	1.00[EUR][1000 genomes]
rs73389732	1.00[EUR][1000 genomes]
rs73389739	1.00[EUR][1000 genomes]
rs73389741	1.00[EUR][1000 genomes]
rs73389742	1.00[EUR][1000 genomes]
rs73389747	1.00[EUR][1000 genomes]
rs73389751	1.00[EUR][1000 genomes]
rs73389753	1.00[EUR][1000 genomes]
rs73389768	1.00[EUR][1000 genomes]
rs741110	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8117400-8153200	Weak transcription	Liver	Liver
2	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
3	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
4	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
5	chr18:8126800-8153200	Weak transcription	A549	lung
6	chr18:8133000-8144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:8135800-8143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8137200-8141600	Enhancers	Left Ventricle	heart
9	chr18:8137400-8142600	Enhancers	Right Ventricle	heart
10	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
11	chr18:8138200-8141200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr18:8138200-8142600	Enhancers	Ovary	ovary
13	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
14	chr18:8139200-8141200	Enhancers	Brain Anterior Caudate	brain
15	chr18:8139200-8141600	Enhancers	Colon Smooth Muscle	Colon
16	chr18:8139200-8141600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr18:8139200-8142600	Enhancers	HSMM	muscle
18	chr18:8139200-8142600	Enhancers	NHDF-Ad	bronchial
19	chr18:8139200-8143000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:8139200-8143000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:8139400-8142600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr18:8139400-8143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:8139600-8141200	Weak transcription	Lung	lung
24	chr18:8139600-8141400	Enhancers	HSMMtube	muscle
25	chr18:8139600-8142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:8139600-8142800	Enhancers	Osteobl	bone
27	chr18:8139600-8143800	Weak transcription	Fetal Lung	lung
28	chr18:8139600-8144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:8139600-8144200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:8139600-8151000	Weak transcription	Fetal Stomach	stomach
31	chr18:8139800-8142800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr18:8139800-8147000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:8140000-8153200	Weak transcription	Fetal Heart	heart
34	chr18:8140200-8141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:8140200-8141200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:8140200-8142400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:8140200-8143800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:8140200-8145400	Weak transcription	Fetal Muscle Leg	muscle
39	chr18:8140200-8146800	Weak transcription	Fetal Brain Male	brain
40	chr18:8140800-8141400	Enhancers	Spleen	Spleen
41	chr18:8140800-8141600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:8140800-8141600	Enhancers	Right Atrium	heart
43	chr18:8140800-8142600	Enhancers	Psoas Muscle	Psoas
44	chr18:8140800-8143000	Enhancers	K562	blood
45	chr18:8141000-8141200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:8141000-8141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:8141000-8141400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr18:8141000-8141600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:8141000-8141600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:8141000-8141600	Enhancers	HMEC	breast

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