Variant report

Variant	rs12906245
Chromosome Location	chr15:56130689-56130690
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56130240..56132919-chr15:56139346..56142252,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10518823	0.84[EUR][1000 genomes]
rs1104845	0.85[EUR][1000 genomes]
rs1104848	0.90[EUR][1000 genomes]
rs12898478	0.84[EUR][1000 genomes]
rs12899701	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12906350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12908286	0.94[EUR][1000 genomes]
rs12908466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12911101	0.94[EUR][1000 genomes]
rs12913220	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819270	0.86[EUR][1000 genomes]
rs1912397	0.84[EUR][1000 genomes]
rs1912403	0.86[EUR][1000 genomes]
rs2899593	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34223710	0.82[EUR][1000 genomes]
rs34333169	0.94[EUR][1000 genomes]
rs34727807	0.84[EUR][1000 genomes]
rs34995202	0.84[EUR][1000 genomes]
rs35142499	0.82[EUR][1000 genomes]
rs35313340	0.94[EUR][1000 genomes]
rs35759462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66857236	0.84[EUR][1000 genomes]
rs67046147	0.86[EUR][1000 genomes]
rs67825863	0.84[EUR][1000 genomes]
rs7172454	0.86[EUR][1000 genomes]
rs8033157	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs933997	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56106000-56131200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:56112600-56133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:56115400-56148000	Weak transcription	Ovary	ovary
4	chr15:56116400-56133400	Weak transcription	Fetal Lung	lung
5	chr15:56116600-56150600	Weak transcription	Right Ventricle	heart
6	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
7	chr15:56117600-56131200	Weak transcription	Small Intestine	intestine
8	chr15:56118600-56151000	Weak transcription	Fetal Kidney	kidney
9	chr15:56118800-56147000	Weak transcription	Gastric	stomach
10	chr15:56118800-56149200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:56118800-56151400	Weak transcription	Brain Anterior Caudate	brain
12	chr15:56119200-56133000	Weak transcription	Primary T cells from cord blood	blood
13	chr15:56119400-56134800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:56120000-56136800	Strong transcription	Liver	Liver
15	chr15:56120000-56144800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:56120000-56147800	Weak transcription	HepG2	liver
17	chr15:56120600-56146600	Weak transcription	Pancreas	Pancrea
18	chr15:56120800-56147200	Weak transcription	Thymus	Thymus
19	chr15:56121200-56147200	Weak transcription	Spleen	Spleen
20	chr15:56121800-56135600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:56122000-56136600	Strong transcription	Fetal Intestine Large	intestine
22	chr15:56122200-56135400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:56122200-56136000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:56122400-56136800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr15:56122400-56145200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:56122600-56134200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:56122600-56152000	Weak transcription	Fetal Thymus	thymus
28	chr15:56122600-56153800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:56122600-56154800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:56122600-56156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:56122800-56132600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:56122800-56134800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:56122800-56141600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr15:56122800-56147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:56122800-56147600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:56122800-56156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:56123000-56136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:56123000-56140200	Weak transcription	Dnd41	blood
39	chr15:56123200-56137600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:56123800-56137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:56125000-56133400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:56125000-56133400	Weak transcription	Aorta	Aorta
43	chr15:56126400-56132000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr15:56126400-56134600	Strong transcription	NH-A	brain
45	chr15:56126600-56131800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:56126600-56132400	Strong transcription	Psoas Muscle	Psoas
47	chr15:56126600-56137600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:56126800-56132600	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:56127000-56137000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:56127200-56131000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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