Variant report

Variant	rs9966297
Chromosome Location	chr18:8402646-8402647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs3786364	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs57117653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7232155	0.88[MKK][hapmap]
rs9955719	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
8	chr18:8381000-8405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:8382400-8409400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr18:8382600-8406400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:8382600-8407200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:8387200-8409200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:8388000-8406200	Weak transcription	Fetal Brain Male	brain
14	chr18:8388000-8408000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr18:8388200-8403800	Weak transcription	Brain Hippocampus Middle	brain
16	chr18:8388200-8405800	Weak transcription	Fetal Brain Female	brain
17	chr18:8388200-8408200	Weak transcription	Brain Angular Gyrus	brain
18	chr18:8388400-8409200	Weak transcription	Fetal Heart	heart
19	chr18:8388400-8410800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:8388600-8406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:8388600-8407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:8388600-8410600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:8391800-8410600	Weak transcription	A549	lung
24	chr18:8392200-8409600	Weak transcription	Osteobl	bone
25	chr18:8393200-8408800	Strong transcription	Left Ventricle	heart
26	chr18:8393800-8411200	Weak transcription	Fetal Kidney	kidney
27	chr18:8394000-8409200	Strong transcription	Fetal Stomach	stomach
28	chr18:8394600-8407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:8394600-8411600	Weak transcription	Placenta	Placenta
30	chr18:8394800-8403600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:8395600-8407000	Weak transcription	Brain Substantia Nigra	brain
32	chr18:8396600-8404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:8396800-8405800	Weak transcription	Liver	Liver
34	chr18:8397600-8409000	Strong transcription	Fetal Muscle Leg	muscle
35	chr18:8398000-8410000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:8399600-8403200	Strong transcription	Fetal Thymus	thymus
37	chr18:8399600-8403600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:8400000-8409600	Weak transcription	HepG2	liver
39	chr18:8400200-8405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr18:8400200-8410800	Weak transcription	Fetal Intestine Large	intestine
41	chr18:8400400-8405400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr18:8400600-8405000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr18:8400800-8402800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr18:8400800-8403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:8400800-8404800	Weak transcription	Spleen	Spleen
46	chr18:8400800-8407000	Weak transcription	Gastric	stomach
47	chr18:8401400-8407400	Weak transcription	Colon Smooth Muscle	Colon
48	chr18:8401400-8407400	Weak transcription	Fetal Lung	lung
49	chr18:8401400-8408000	Weak transcription	Fetal Intestine Small	intestine
50	chr18:8401600-8405400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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