Variant report

Variant	rs73281526
Chromosome Location	chr12:45760226-45760227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11183016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11543435	0.80[AFR][1000 genomes]
rs35213944	0.80[AFR][1000 genomes]
rs57266792	0.84[AFR][1000 genomes]
rs58337263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58640880	0.80[AFR][1000 genomes]
rs59030619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60534803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61471266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.80[AFR][1000 genomes]
rs73281412	0.80[AFR][1000 genomes]
rs73281450	0.84[AFR][1000 genomes]
rs73281506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281553	1.00[AFR][1000 genomes]
rs73281555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281585	1.00[AFR][1000 genomes]
rs73281588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283345	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283347	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283357	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
5	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:45745000-45779800	Weak transcription	Gastric	stomach
7	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
8	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
9	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:45750000-45772200	Weak transcription	K562	blood
13	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
14	chr12:45752200-45762200	Weak transcription	Right Ventricle	heart
15	chr12:45752200-45762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:45752200-45762600	Weak transcription	HSMMtube	muscle
17	chr12:45752200-45762600	Weak transcription	NH-A	brain
18	chr12:45752200-45763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
21	chr12:45752400-45763800	Weak transcription	HMEC	breast
22	chr12:45753200-45760400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:45755000-45761600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:45757400-45763800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:45757800-45762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:45757800-45763400	Weak transcription	Placenta	Placenta
27	chr12:45757800-45763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:45757800-45763800	Weak transcription	Fetal Stomach	stomach
29	chr12:45758000-45762200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:45758000-45762400	Weak transcription	NHDF-Ad	bronchial
31	chr12:45758000-45762600	Weak transcription	NHEK	skin
32	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:45758200-45762000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:45758200-45762000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:45758200-45762000	Weak transcription	Fetal Kidney	kidney
36	chr12:45758200-45762200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:45758200-45762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:45758200-45762200	Weak transcription	Liver	Liver
39	chr12:45758200-45762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:45758200-45763800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:45758200-45763800	Weak transcription	HepG2	liver
42	chr12:45758200-45764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:45758200-45771000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:45758400-45761800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:45758400-45762000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:45758400-45762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:45758400-45762200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:45758400-45762800	Weak transcription	HSMM	muscle
49	chr12:45758400-45763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:45758400-45763800	Strong transcription	Monocytes-CD14+_RO01746	blood

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