Variant report

Variant	rs12443085
Chromosome Location	chr15:57485049-57485050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57484373..57486425-chr15:57489732..57491739,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12437777	1.00[AFR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12438324	0.86[AMR][1000 genomes]
rs12438331	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12438428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes]
rs12438782	0.90[AMR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439374	0.86[AMR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12440116	0.84[EUR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440878	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1462157	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17239313	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239522	0.86[AMR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17820006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17820077	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17820119	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17820131	0.88[AMR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4514619	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8031866	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
3	chr15:57444400-57507400	Weak transcription	K562	blood
4	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:57450800-57491000	Weak transcription	Left Ventricle	heart
6	chr15:57451000-57487800	Weak transcription	Psoas Muscle	Psoas
7	chr15:57451000-57490800	Weak transcription	NHEK	skin
8	chr15:57451200-57490400	Weak transcription	Ovary	ovary
9	chr15:57451600-57491200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:57452400-57490400	Weak transcription	Fetal Brain Female	brain
11	chr15:57453800-57485400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:57457200-57499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:57458200-57505200	Strong transcription	Fetal Thymus	thymus
15	chr15:57459200-57488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:57459200-57492600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr15:57459800-57490200	Weak transcription	HSMMtube	muscle
18	chr15:57460400-57486400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr15:57462400-57485400	Weak transcription	Fetal Kidney	kidney
20	chr15:57463800-57489200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:57469000-57488600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:57473600-57491200	Weak transcription	Gastric	stomach
23	chr15:57475800-57491000	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:57476200-57490200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:57476200-57490400	Weak transcription	HUVEC	blood vessel
26	chr15:57476200-57491200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:57476800-57485400	Weak transcription	Brain Anterior Caudate	brain
28	chr15:57476800-57490000	Weak transcription	Small Intestine	intestine
29	chr15:57477000-57485200	Weak transcription	NHDF-Ad	bronchial
30	chr15:57477000-57492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:57477200-57485400	Weak transcription	NHLF	lung
32	chr15:57477200-57491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:57477600-57490000	Weak transcription	Brain Angular Gyrus	brain
34	chr15:57478200-57493200	Weak transcription	HepG2	liver
35	chr15:57478600-57494000	Weak transcription	Pancreas	Pancrea
36	chr15:57478800-57490000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:57478800-57490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
39	chr15:57479000-57485200	Weak transcription	HMEC	breast
40	chr15:57479000-57490400	Weak transcription	NH-A	brain
41	chr15:57479200-57486200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:57479200-57490000	Weak transcription	Brain Germinal Matrix	brain
43	chr15:57479400-57490800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:57479400-57491000	Weak transcription	HSMM	muscle
45	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:57481400-57490200	Weak transcription	Aorta	Aorta
47	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
48	chr15:57482400-57486000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:57482400-57487000	Strong transcription	Primary T cells from cord blood	blood
50	chr15:57482400-57491200	Weak transcription	Fetal Brain Male	brain

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