Variant report

Variant	rs62022300
Chromosome Location	chr15:42709998-42709999
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	chr15:42702230..42704169-chr15:42709643..42711868,2	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11544099	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11639355	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438745	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438846	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12442040	0.91[EUR][1000 genomes]
rs12442046	0.91[EUR][1000 genomes]
rs17708630	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17765354	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28602748	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28726153	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3742999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4267280	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62022301	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62022302	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62022303	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62022305	0.96[EUR][1000 genomes]
rs62022306	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62022307	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72707471	1.00[EUR][1000 genomes]
rs72707477	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42689000-42712400	Weak transcription	Fetal Brain Male	brain
2	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:42695000-42716000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:42698600-42738400	Strong transcription	Fetal Muscle Leg	muscle
5	chr15:42699200-42741600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:42700000-42732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:42700200-42713600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:42700600-42710200	Strong transcription	Brain Anterior Caudate	brain
9	chr15:42700800-42732000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:42701000-42719200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:42701000-42738800	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:42701400-42710200	Strong transcription	Brain Cingulate Gyrus	brain
15	chr15:42701400-42710200	Strong transcription	Brain Hippocampus Middle	brain
16	chr15:42701400-42710200	Strong transcription	Brain Substantia Nigra	brain
17	chr15:42701400-42732600	Strong transcription	Adipose Nuclei	Adipose
18	chr15:42701600-42744200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr15:42701800-42732400	Strong transcription	Fetal Intestine Large	intestine
20	chr15:42702000-42711400	Strong transcription	Primary T cells from cord blood	blood
21	chr15:42702200-42719200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:42702400-42710200	Strong transcription	Primary B cells from cord blood	blood
24	chr15:42702400-42732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:42702400-42744200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:42702400-42744200	Strong transcription	Liver	Liver
27	chr15:42702600-42713000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:42702600-42719400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:42702600-42724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:42702600-42732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:42702600-42738800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:42702600-42744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:42702800-42711200	Strong transcription	Colon Smooth Muscle	Colon
34	chr15:42702800-42719200	Strong transcription	HSMMtube	muscle
35	chr15:42702800-42732000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:42702800-42744400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr15:42703000-42710200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr15:42703000-42710400	Strong transcription	HSMM	muscle
39	chr15:42703000-42726000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:42703000-42732200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:42703000-42732400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:42703200-42732600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr15:42704000-42721400	Strong transcription	Fetal Thymus	thymus
44	chr15:42704000-42744400	Strong transcription	Fetal Lung	lung
45	chr15:42704000-42746800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:42704200-42731000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:42704400-42710000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:42704600-42713000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:42704600-42744200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:42704800-42710000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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