Variant report

Variant	rs16952866
Chromosome Location	chr18:8085619-8085620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16952771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4306631	1.00[EUR][1000 genomes]
rs4356582	1.00[EUR][1000 genomes]
rs4633832	1.00[EUR][1000 genomes]
rs57135719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58929719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60102079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60767363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60825749	1.00[EUR][1000 genomes]
rs7230272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7230992	1.00[EUR][1000 genomes]
rs7237788	1.00[EUR][1000 genomes]
rs7245244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73379949	1.00[EUR][1000 genomes]
rs73381850	1.00[EUR][1000 genomes]
rs73381854	1.00[EUR][1000 genomes]
rs73381859	1.00[EUR][1000 genomes]
rs73381860	1.00[EUR][1000 genomes]
rs73381869	1.00[EUR][1000 genomes]
rs73381871	1.00[EUR][1000 genomes]
rs73381878	1.00[EUR][1000 genomes]
rs73381887	1.00[EUR][1000 genomes]
rs73385609	1.00[EUR][1000 genomes]
rs73385613	1.00[EUR][1000 genomes]
rs73385621	1.00[EUR][1000 genomes]
rs73385641	1.00[EUR][1000 genomes]
rs73385646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385662	1.00[EUR][1000 genomes]
rs73385668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73387708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73387757	1.00[EUR][1000 genomes]
rs8083556	1.00[EUR][1000 genomes]
rs8097080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
3	chr18:8066200-8094000	Weak transcription	Hela-S3	cervix
4	chr18:8067000-8085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
6	chr18:8067600-8094800	Weak transcription	NHDF-Ad	bronchial
7	chr18:8068000-8085800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:8068000-8092400	Weak transcription	Thymus	Thymus
9	chr18:8068000-8094800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr18:8068000-8100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:8068400-8095200	Weak transcription	Lung	lung
12	chr18:8068400-8101600	Weak transcription	Fetal Stomach	stomach
13	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
14	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:8069000-8087600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr18:8069000-8102200	Weak transcription	Fetal Muscle Leg	muscle
17	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr18:8069600-8088400	Weak transcription	HMEC	breast
21	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
22	chr18:8070000-8085800	Weak transcription	Brain Substantia Nigra	brain
23	chr18:8070000-8085800	Weak transcription	A549	lung
24	chr18:8070000-8093200	Weak transcription	Fetal Lung	lung
25	chr18:8070000-8097600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:8074200-8102400	Weak transcription	Psoas Muscle	Psoas
27	chr18:8076400-8087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:8079000-8092600	Weak transcription	Ovary	ovary
29	chr18:8079200-8085800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:8079400-8085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:8080600-8091000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:8082200-8092600	Weak transcription	Gastric	stomach
33	chr18:8083600-8086000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:8084400-8102800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:8084600-8086400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:8084600-8086400	Enhancers	HSMMtube	muscle
37	chr18:8084600-8102600	Weak transcription	NH-A	brain
38	chr18:8084600-8108000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:8084800-8086200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr18:8084800-8088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr18:8085000-8086200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:8085000-8086600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:8085000-8088000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr18:8085200-8086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr18:8085200-8088600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr18:8085200-8091000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:8085200-8093800	Weak transcription	Osteobl	bone
48	chr18:8085200-8096600	Weak transcription	Fetal Heart	heart
49	chr18:8085200-8102800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr18:8085400-8086600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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