Variant report

Variant	rs73281566
Chromosome Location	chr12:45794490-45794491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45791995..45795118-chr12:45796222..45798017,3	K562	blood:

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]
rs73281526	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]
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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
4	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:45763400-45796000	Weak transcription	Osteobl	bone
9	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:45772600-45815400	Weak transcription	K562	blood
13	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
15	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
16	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:45778000-45795800	Weak transcription	NH-A	brain
19	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:45780400-45795400	Weak transcription	HSMM	muscle
21	chr12:45780400-45796800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:45780400-45829800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:45780600-45794600	Weak transcription	HMEC	breast
24	chr12:45780600-45795600	Weak transcription	HSMMtube	muscle
25	chr12:45780800-45795600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:45780800-45802000	Weak transcription	Right Ventricle	heart
27	chr12:45782400-45794600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:45782400-45795600	Weak transcription	Fetal Kidney	kidney
29	chr12:45782400-45797200	Weak transcription	Aorta	Aorta
30	chr12:45783200-45818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:45783400-45826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:45783600-45799800	Weak transcription	HepG2	liver
33	chr12:45784000-45795600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:45784800-45794600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:45784800-45795200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:45784800-45795600	Weak transcription	NHEK	skin
37	chr12:45784800-45795800	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:45785200-45795600	Weak transcription	HUVEC	blood vessel
39	chr12:45785600-45795600	Weak transcription	NHLF	lung
40	chr12:45785600-45796400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:45786000-45797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:45786000-45799800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:45786000-45800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:45786200-45794600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:45786200-45794800	Weak transcription	Pancreas	Pancrea
46	chr12:45786200-45797200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:45786200-45801000	Weak transcription	Psoas Muscle	Psoas
48	chr12:45786200-45801200	Weak transcription	Spleen	Spleen
49	chr12:45786200-45805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:45786200-45806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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