Variant report

Variant	rs7234873
Chromosome Location	chr18:8259126-8259127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8085847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv1055995	chr18:8222469-8271135	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:8231400-8265000	Weak transcription	Pancreas	Pancrea
4	chr18:8235000-8260400	Weak transcription	Psoas Muscle	Psoas
5	chr18:8239600-8264000	Weak transcription	HepG2	liver
6	chr18:8241200-8263600	Weak transcription	Fetal Lung	lung
7	chr18:8242400-8260600	Weak transcription	Brain Hippocampus Middle	brain
8	chr18:8242400-8261000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:8242400-8264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:8242600-8260600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:8243400-8263000	Weak transcription	Gastric	stomach
12	chr18:8244000-8260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:8245200-8262800	Weak transcription	Fetal Thymus	thymus
14	chr18:8245400-8260000	Weak transcription	Ovary	ovary
15	chr18:8245400-8272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
17	chr18:8245600-8260200	Weak transcription	Thymus	Thymus
18	chr18:8246600-8259600	Weak transcription	NHEK	skin
19	chr18:8246800-8274000	Weak transcription	Hela-S3	cervix
20	chr18:8247400-8263000	Weak transcription	HMEC	breast
21	chr18:8247800-8260200	Weak transcription	Primary T cells from cord blood	blood
22	chr18:8250600-8265200	Weak transcription	Fetal Kidney	kidney
23	chr18:8253000-8260000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:8253200-8260200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:8253400-8260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:8253600-8259800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:8253600-8260200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr18:8253600-8260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:8253600-8262200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr18:8254200-8259800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:8254200-8260400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:8254200-8260400	Weak transcription	Lung	lung
33	chr18:8254200-8279200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:8254400-8260000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr18:8254800-8260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:8254800-8260200	Weak transcription	Right Ventricle	heart
37	chr18:8254800-8260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:8254800-8261800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:8255000-8259800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:8255000-8260400	Weak transcription	Fetal Brain Male	brain
41	chr18:8255000-8260600	Weak transcription	HSMMtube	muscle
42	chr18:8255000-8264800	Weak transcription	Liver	Liver
43	chr18:8255200-8259800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr18:8255200-8261400	Weak transcription	Fetal Heart	heart
45	chr18:8255400-8260400	Weak transcription	Brain Angular Gyrus	brain
46	chr18:8255400-8260600	Weak transcription	Fetal Brain Female	brain
47	chr18:8256000-8264000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:8256200-8260000	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:8258000-8261200	Strong transcription	Fetal Stomach	stomach
50	chr18:8258400-8260000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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