Variant report

Variant	rs1130821
Chromosome Location	chr16:65022234-65022235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10500505	0.81[ASN][1000 genomes]
rs11075558	0.81[ASN][1000 genomes]
rs11075559	0.81[ASN][1000 genomes]
rs1124695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12596107	0.81[ASN][1000 genomes]
rs12597175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12599626	0.81[ASN][1000 genomes]
rs13334375	0.81[ASN][1000 genomes]
rs1390641	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1402020	0.91[AMR][1000 genomes]
rs1496397	0.86[ASN][1000 genomes]
rs1520238	0.88[ASN][1000 genomes]
rs1554401	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942787	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16956488	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs16968172	0.87[ASN][1000 genomes]
rs16968237	0.91[AMR][1000 genomes]
rs1896754	0.81[ASN][1000 genomes]
rs2195431	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3785315	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57879848	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs58004552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58245127	0.81[ASN][1000 genomes]
rs59208924	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59407170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59614634	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60424410	0.91[AMR][1000 genomes]
rs62042187	0.81[AFR][1000 genomes]
rs7190608	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73575990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73579797	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8050545	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr16:65004800-65027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:65006600-65024800	Weak transcription	Spleen	Spleen
7	chr16:65008600-65024000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr16:65014200-65040200	Weak transcription	Fetal Intestine Small	intestine
9	chr16:65015000-65035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:65016200-65025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:65016200-65032400	Weak transcription	Lung	lung
12	chr16:65016200-65040200	Weak transcription	Left Ventricle	heart
13	chr16:65017200-65041800	Weak transcription	Colon Smooth Muscle	Colon
14	chr16:65018000-65024000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:65018000-65025400	Weak transcription	Small Intestine	intestine
16	chr16:65018000-65035600	Strong transcription	HSMM	muscle
17	chr16:65018200-65025000	Strong transcription	Ovary	ovary
18	chr16:65018400-65023000	Strong transcription	Fetal Lung	lung
19	chr16:65018400-65023400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:65018400-65025000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:65018400-65028400	Strong transcription	NH-A	brain
22	chr16:65018400-65028600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:65018600-65024800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:65018800-65026000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr16:65018800-65035600	Strong transcription	Osteobl	bone
26	chr16:65019000-65023400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:65019000-65028000	Strong transcription	NHDF-Ad	bronchial
28	chr16:65019400-65022600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:65019400-65022600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:65019400-65026800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:65019600-65023400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:65019600-65023800	Strong transcription	HSMMtube	muscle
33	chr16:65019600-65027800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:65020200-65022400	Strong transcription	Brain Hippocampus Middle	brain
35	chr16:65020200-65028800	Strong transcription	NHLF	lung
36	chr16:65020400-65022400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr16:65020400-65024600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:65020400-65026000	Strong transcription	Fetal Stomach	stomach
39	chr16:65020400-65026800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr16:65020400-65027000	Strong transcription	Fetal Brain Female	brain
41	chr16:65020800-65022600	Strong transcription	Brain Substantia Nigra	brain
42	chr16:65020800-65022800	Strong transcription	Brain Anterior Caudate	brain
43	chr16:65020800-65023800	Strong transcription	Placenta	Placenta
44	chr16:65020800-65024400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:65021000-65023600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr16:65021000-65034200	Weak transcription	Adipose Nuclei	Adipose
47	chr16:65021200-65026000	Strong transcription	Aorta	Aorta
48	chr16:65021200-65038200	Weak transcription	Brain Germinal Matrix	brain
49	chr16:65021400-65023600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:65021600-65023600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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