Variant report

Variant	rs16952975
Chromosome Location	chr18:8165568-8165569
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11874504	1.00[CEU][hapmap]
rs2058469	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs28557220	1.00[CEU][hapmap]
rs4121769	1.00[CEU][hapmap]
rs552322	1.00[CEU][hapmap]
rs626707	1.00[CEU][hapmap]
rs722021	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs741110	1.00[CEU][hapmap]
rs8082876	1.00[CEU][hapmap]
rs8098561	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv458020	chr18:8161470-8183260	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv576427	chr18:8161470-8183260	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8152000-8167200	Weak transcription	Gastric	stomach
2	chr18:8157600-8167000	Weak transcription	Brain Anterior Caudate	brain
3	chr18:8159000-8166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:8159000-8166200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:8159000-8167000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:8159000-8167000	Weak transcription	Aorta	Aorta
7	chr18:8159000-8167200	Weak transcription	Fetal Lung	lung
8	chr18:8159000-8169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:8159000-8170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:8159000-8176600	Weak transcription	Pancreas	Pancrea
11	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:8159200-8168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:8160600-8167600	Weak transcription	Psoas Muscle	Psoas
14	chr18:8161000-8167200	Weak transcription	Ovary	ovary
15	chr18:8161600-8176600	Weak transcription	Spleen	Spleen
16	chr18:8162600-8166000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:8163000-8177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:8163200-8167800	Weak transcription	Right Atrium	heart
19	chr18:8163200-8177800	Weak transcription	Lung	lung
20	chr18:8163400-8174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:8163600-8167000	Weak transcription	Left Ventricle	heart
22	chr18:8163600-8175600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:8163800-8174400	Weak transcription	Colon Smooth Muscle	Colon
24	chr18:8165000-8165600	Enhancers	Right Ventricle	heart
25	chr18:8165200-8165800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr18:8165400-8165600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:8165400-8165600	Enhancers	A549	lung
28	chr18:8165400-8165800	Enhancers	Fetal Heart	heart

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