Variant report

Variant	rs12912732
Chromosome Location	chr15:56149925-56149926
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	chr15:56146576..56148212-chr15:56149809..56151716,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10851598	0.81[AMR][1000 genomes]
rs11071229	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1134352	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11635063	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11853453	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11858692	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12593446	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12906680	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12912488	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976653	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17819276	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819294	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1912404	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs28444575	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34965600	0.86[ASN][1000 genomes]
rs3759865	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4774229	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493825	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6493827	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs7163864	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7180060	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7182280	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9888655	0.80[EUR][1000 genomes]
rs9888676	0.81[EUR][1000 genomes]
rs9920007	0.83[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	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56116600-56150600	Weak transcription	Right Ventricle	heart
2	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
3	chr15:56118600-56151000	Weak transcription	Fetal Kidney	kidney
4	chr15:56118800-56151400	Weak transcription	Brain Anterior Caudate	brain
5	chr15:56122600-56152000	Weak transcription	Fetal Thymus	thymus
6	chr15:56122600-56153800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr15:56122600-56154800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr15:56122600-56156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:56122800-56156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:56127200-56155400	Strong transcription	Osteobl	bone
11	chr15:56127200-56155800	Strong transcription	HSMM	muscle
12	chr15:56129000-56157400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:56132000-56164800	Weak transcription	Small Intestine	intestine
14	chr15:56133000-56152600	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:56133600-56154400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr15:56134200-56150600	Weak transcription	Left Ventricle	heart
17	chr15:56134400-56150000	Weak transcription	Psoas Muscle	Psoas
18	chr15:56134400-56156600	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:56134800-56151800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:56135000-56156600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:56135200-56152600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:56138200-56161800	Weak transcription	K562	blood
23	chr15:56138600-56154400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:56138800-56152800	Weak transcription	GM12878-XiMat	blood
25	chr15:56139400-56155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:56139600-56153200	Strong transcription	NHEK	skin
27	chr15:56140000-56152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:56140200-56155600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:56141800-56150800	Weak transcription	Dnd41	blood
30	chr15:56142800-56153200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr15:56142800-56155400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:56144800-56150200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:56145800-56153000	Strong transcription	Fetal Intestine Small	intestine
34	chr15:56145800-56155400	Strong transcription	Fetal Intestine Large	intestine
35	chr15:56146000-56153000	Strong transcription	Fetal Stomach	stomach
36	chr15:56146200-56151800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:56146200-56155000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:56146400-56155600	Strong transcription	Liver	Liver
39	chr15:56147200-56154800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:56148000-56160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:56148200-56150800	Weak transcription	Fetal Lung	lung
42	chr15:56148200-56152000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:56148200-56152200	Weak transcription	Lung	lung
44	chr15:56148200-56154400	Weak transcription	Thymus	Thymus
45	chr15:56148200-56155000	Weak transcription	Pancreas	Pancrea
46	chr15:56148200-56174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:56148400-56150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:56148400-56150800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:56148400-56150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:56148600-56150200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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