Variant report

Variant	rs9954286
Chromosome Location	chr18:8296464-8296465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:120625..123083-chr18:8295781..8298042,2	MCF-7	breast:
2	chr18:8290482..8292499-chr18:8294352..8296889,2	K562	blood:

Variant related genes	Relation type
ENSG00000007384	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28638275	1.00[AMR][1000 genomes]
rs7238124	1.00[ASW][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs9954911	1.00[AMR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8265400-8296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr18:8270800-8297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8284600-8298800	Weak transcription	HepG2	liver
4	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:8284800-8296600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:8284800-8301000	Weak transcription	Osteobl	bone
7	chr18:8286400-8298400	Weak transcription	Gastric	stomach
8	chr18:8287400-8296600	Weak transcription	Thymus	Thymus
9	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:8288400-8297800	Weak transcription	A549	lung
11	chr18:8289000-8300600	Weak transcription	Spleen	Spleen
12	chr18:8289000-8301600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:8289000-8308200	Weak transcription	Psoas Muscle	Psoas
14	chr18:8289200-8296600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:8289200-8297000	Weak transcription	Lung	lung
16	chr18:8289200-8299400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:8289200-8300400	Weak transcription	Fetal Brain Female	brain
18	chr18:8289200-8300400	Weak transcription	Fetal Heart	heart
19	chr18:8289200-8300800	Weak transcription	Pancreas	Pancrea
20	chr18:8289200-8301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
22	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
23	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
24	chr18:8289400-8298600	Weak transcription	Liver	Liver
25	chr18:8291400-8300400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr18:8292600-8297400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:8293200-8299400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:8293600-8300000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:8294600-8296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:8295000-8298400	Strong transcription	Aorta	Aorta
33	chr18:8295000-8300800	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
35	chr18:8295200-8301000	Weak transcription	HMEC	breast
36	chr18:8296200-8296800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:8296200-8298200	Strong transcription	Ovary	ovary
38	chr18:8296200-8298400	Strong transcription	Fetal Lung	lung
39	chr18:8296200-8298600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:8296200-8298600	Weak transcription	Fetal Intestine Small	intestine
41	chr18:8296400-8296600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr18:8296400-8297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:8296400-8297000	Strong transcription	Brain Anterior Caudate	brain
44	chr18:8296400-8297200	Strong transcription	Fetal Thymus	thymus
45	chr18:8296400-8297400	Enhancers	Fetal Kidney	kidney
46	chr18:8296400-8297800	Strong transcription	Left Ventricle	heart
47	chr18:8296400-8298200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:8296400-8298200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr18:8296400-8298600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:8296400-8298600	Strong transcription	Adipose Nuclei	Adipose

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