Variant report

Variant	rs12955074
Chromosome Location	chr18:8142863-8142864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10048238	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10163540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10468654	0.82[EUR][1000 genomes]
rs10468775	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12961323	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25417	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502621	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28646008	0.87[EUR][1000 genomes]
rs34886811	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61496201	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089553	1.00[ASN][1000 genomes]
rs6506551	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241418	0.83[EUR][1000 genomes];1.00[ASN][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:47 , 50 per page) page: 1

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	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
9	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
10	chr18:8139200-8143000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:8139200-8143000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr18:8139400-8143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:8139600-8143800	Weak transcription	Fetal Lung	lung
14	chr18:8139600-8144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:8139600-8144200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:8139600-8151000	Weak transcription	Fetal Stomach	stomach
17	chr18:8139800-8147000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr18:8140000-8153200	Weak transcription	Fetal Heart	heart
19	chr18:8140200-8143800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:8140200-8145400	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:8140200-8146800	Weak transcription	Fetal Brain Male	brain
22	chr18:8140800-8143000	Enhancers	K562	blood
23	chr18:8141000-8143000	Enhancers	NH-A	brain
24	chr18:8141400-8143200	Enhancers	Adipose Nuclei	Adipose
25	chr18:8141400-8144400	Weak transcription	Fetal Thymus	thymus
26	chr18:8141400-8150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:8141600-8143200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:8141600-8143600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:8141600-8143600	Weak transcription	Lung	lung
30	chr18:8141600-8144200	Weak transcription	Left Ventricle	heart
31	chr18:8141600-8144200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr18:8141600-8148200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:8141600-8151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:8141600-8159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:8142200-8143000	Enhancers	Brain Anterior Caudate	brain
36	chr18:8142200-8156000	Weak transcription	HepG2	liver
37	chr18:8142400-8157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:8142600-8144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:8142600-8147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr18:8142600-8151400	Weak transcription	Ovary	ovary
41	chr18:8142600-8153600	Weak transcription	HSMM	muscle
42	chr18:8142600-8160200	Weak transcription	Psoas Muscle	Psoas
43	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
44	chr18:8142800-8143200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:8142800-8143200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr18:8142800-8145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:8142800-8151000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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