Variant report

Variant	rs948778
Chromosome Location	chr18:8005460-8005461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16952665	0.83[AMR][1000 genomes]
rs16952669	0.83[AMR][1000 genomes]
rs16952673	0.83[AMR][1000 genomes]
rs16952719	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16952732	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2187185	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4380142	0.85[AFR][1000 genomes]
rs57058858	0.83[AMR][1000 genomes]
rs6506543	0.82[AFR][1000 genomes]
rs7238210	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084245	0.83[AMR][1000 genomes]
rs8088494	1.00[AMR][1000 genomes]
rs8090607	0.83[AMR][1000 genomes]
rs8098105	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099263	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8001000-8007600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8001400-8005600	Weak transcription	Psoas Muscle	Psoas
4	chr18:8001400-8006600	Weak transcription	Lung	lung
5	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:8002000-8006000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:8002800-8006400	Weak transcription	A549	lung
9	chr18:8003200-8006600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:8003200-8006600	Enhancers	Brain Germinal Matrix	brain
11	chr18:8003400-8006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:8003600-8006800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:8004000-8006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:8004200-8005800	Enhancers	Fetal Brain Female	brain
15	chr18:8004200-8007600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:8004200-8020200	Weak transcription	Pancreas	Pancrea
17	chr18:8004200-8029000	Weak transcription	Gastric	stomach
18	chr18:8004400-8005600	Weak transcription	Fetal Heart	heart
19	chr18:8004400-8005800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:8004400-8016200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr18:8004600-8020200	Weak transcription	Fetal Lung	lung
22	chr18:8004800-8005600	Weak transcription	Left Ventricle	heart
23	chr18:8004800-8005600	Weak transcription	Right Atrium	heart
24	chr18:8004800-8005600	Weak transcription	Right Ventricle	heart
25	chr18:8004800-8005800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:8004800-8005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:8004800-8006000	Weak transcription	Ovary	ovary
28	chr18:8004800-8006000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:8004800-8010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:8004800-8016200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:8004800-8016800	Weak transcription	Aorta	Aorta
32	chr18:8004800-8020200	Weak transcription	Adipose Nuclei	Adipose
33	chr18:8005000-8005600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:8005000-8006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:8005000-8006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:8005000-8020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:8005200-8007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:8005400-8005800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:8005400-8006800	Enhancers	Fetal Brain Male	brain

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