Variant report

Variant	rs644694
Chromosome Location	chr18:8308220-8308221
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs600032	0.97[ASN][1000 genomes]
rs603596	0.97[ASN][1000 genomes]
rs616096	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs616965	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
2	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
3	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
7	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:8297200-8316200	Weak transcription	Fetal Thymus	thymus
9	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:8298200-8319600	Weak transcription	A549	lung
11	chr18:8298200-8327000	Weak transcription	Ovary	ovary
12	chr18:8298400-8311800	Weak transcription	Left Ventricle	heart
13	chr18:8298400-8312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:8298400-8324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:8298400-8329400	Weak transcription	Aorta	Aorta
16	chr18:8298600-8315600	Weak transcription	Adipose Nuclei	Adipose
17	chr18:8298600-8320200	Weak transcription	Thymus	Thymus
18	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:8299200-8328600	Weak transcription	HepG2	liver
20	chr18:8299400-8314200	Weak transcription	Gastric	stomach
21	chr18:8301800-8311600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:8301800-8321000	Weak transcription	Fetal Lung	lung
23	chr18:8301800-8322600	Weak transcription	Pancreas	Pancrea
24	chr18:8302400-8320200	Weak transcription	Lung	lung
25	chr18:8302800-8327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:8304400-8319600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:8306800-8312200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:8307000-8308400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:8307000-8308400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:8307000-8313800	Weak transcription	HSMM	muscle
31	chr18:8307200-8310000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:8307400-8312200	Weak transcription	NH-A	brain
33	chr18:8307400-8315200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:8307400-8320000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:8307400-8321800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr18:8307400-8328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:8307600-8316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:8307600-8327200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr18:8307800-8318800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:8308000-8308400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:8308200-8308400	Enhancers	Psoas Muscle	Psoas

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