Variant report

Variant	rs12916751
Chromosome Location	chr15:59221741-59221742
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	chr15:59220368..59223224-chr15:59377778..59380612,2	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10162821	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10518991	0.88[ASN][1000 genomes]
rs10518992	0.88[ASN][1000 genomes]
rs1078001	0.87[ASN][1000 genomes]
rs11071400	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11071401	0.89[ASN][1000 genomes]
rs11630160	0.88[ASN][1000 genomes]
rs11636723	0.89[ASN][1000 genomes]
rs11637077	0.87[ASN][1000 genomes]
rs11858989	0.89[ASN][1000 genomes]
rs12148858	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12443436	0.87[ASN][1000 genomes]
rs12595482	0.88[ASN][1000 genomes]
rs12708456	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909894	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12914723	0.86[ASN][1000 genomes]
rs17302038	0.88[ASN][1000 genomes]
rs17302045	0.88[ASN][1000 genomes]
rs173214	0.82[ASN][1000 genomes]
rs2013117	0.81[ASN][1000 genomes]
rs2270664	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279719	0.90[ASN][1000 genomes]
rs28473013	0.89[ASN][1000 genomes]
rs28529423	0.89[ASN][1000 genomes]
rs28538484	0.88[ASN][1000 genomes]
rs28641638	0.91[ASN][1000 genomes]
rs28709922	0.89[ASN][1000 genomes]
rs3145	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35477914	0.88[ASN][1000 genomes]
rs4774315	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4775101	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67851431	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71407077	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7173317	0.89[ASN][1000 genomes]
rs793571	0.81[EUR][1000 genomes]
rs8035628	0.88[ASN][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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
6	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:59193000-59223200	Weak transcription	Aorta	Aorta
10	chr15:59193000-59223200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:59193000-59224200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:59193000-59224200	Weak transcription	Colonic Mucosa	Colon
13	chr15:59193000-59224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:59194000-59223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:59197200-59225000	Weak transcription	Gastric	stomach
16	chr15:59199800-59224200	Weak transcription	Esophagus	oesophagus
17	chr15:59200600-59224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:59208000-59223200	Weak transcription	Brain Angular Gyrus	brain
19	chr15:59208000-59223200	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:59209600-59223400	Weak transcription	Fetal Brain Male	brain
21	chr15:59209600-59223400	Weak transcription	Fetal Brain Female	brain
22	chr15:59211000-59223200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:59211400-59222600	Strong transcription	Fetal Thymus	thymus
24	chr15:59211400-59223000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:59211400-59223200	Weak transcription	Fetal Heart	heart
26	chr15:59211600-59223000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:59211800-59224200	Weak transcription	Pancreas	Pancrea
28	chr15:59212200-59223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:59215600-59224200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:59215800-59223400	Weak transcription	Thymus	Thymus
31	chr15:59217200-59222000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:59217200-59222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:59217200-59223200	Weak transcription	Stomach Mucosa	stomach
34	chr15:59217400-59222000	Strong transcription	HSMM	muscle
35	chr15:59217600-59222000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:59217600-59222200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:59217600-59222200	Strong transcription	K562	blood
38	chr15:59217600-59222600	Strong transcription	NHEK	skin
39	chr15:59217800-59221800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr15:59217800-59221800	Weak transcription	Ovary	ovary
41	chr15:59217800-59222200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:59217800-59222200	Strong transcription	Liver	Liver
43	chr15:59217800-59222800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr15:59217800-59222800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr15:59217800-59223000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:59217800-59223400	Weak transcription	Psoas Muscle	Psoas
47	chr15:59217800-59223400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:59218000-59222400	Strong transcription	A549	lung
49	chr15:59218200-59222000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:59218200-59222000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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