Variant report

Variant	rs10192566
Chromosome Location	chr2:11890428-11890429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11886726..11888240-chr2:11889703..11892013,2	MCF-7	breast:
2	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
3	chr2:11890007..11892295-chr2:11917973..11920590,2	K562	blood:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006538	0.91[ASN][1000 genomes]
rs10169802	1.00[ASN][1000 genomes]
rs10205312	0.90[ASN][1000 genomes]
rs10205400	0.89[ASN][1000 genomes]
rs10207506	0.99[ASN][1000 genomes]
rs10208679	0.99[ASN][1000 genomes]
rs10209969	0.91[ASN][1000 genomes]
rs11676086	0.99[ASN][1000 genomes]
rs11693809	1.00[ASN][1000 genomes]
rs11897144	0.91[ASN][1000 genomes]
rs13407101	0.93[ASN][1000 genomes]
rs13409154	0.99[ASN][1000 genomes]
rs13412852	0.89[ASN][1000 genomes]
rs1469952	0.85[ASN][1000 genomes]
rs2278513	0.85[ASN][1000 genomes]
rs2358041	0.89[ASN][1000 genomes]
rs2358042	0.89[ASN][1000 genomes]
rs4076055	1.00[ASN][1000 genomes]
rs4315495	0.99[ASN][1000 genomes]
rs4669778	0.82[ASN][1000 genomes]
rs62113306	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6717910	0.84[ASN][1000 genomes]
rs6731096	0.97[ASN][1000 genomes]
rs72773994	0.91[ASN][1000 genomes]
rs7595221	0.94[ASN][1000 genomes]
rs873358	0.99[ASN][1000 genomes]
rs893342	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11887000-11891600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:11887400-11890600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr2:11887600-11890600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:11887600-11891200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr2:11887600-11891400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:11887800-11891400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:11887800-11894000	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:11888000-11891400	Enhancers	Primary B cells from cord blood	blood
9	chr2:11888000-11891600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:11888000-11891600	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:11888000-11891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:11888200-11890600	Weak transcription	Osteobl	bone
13	chr2:11888200-11891200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:11888200-11891400	Enhancers	Brain Angular Gyrus	brain
15	chr2:11888400-11890600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:11888400-11890600	Enhancers	Adipose Nuclei	Adipose
17	chr2:11888400-11890600	Enhancers	Brain Germinal Matrix	brain
18	chr2:11888400-11890800	Weak transcription	Placenta	Placenta
19	chr2:11888400-11890800	Enhancers	Ovary	ovary
20	chr2:11888400-11891000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:11888400-11891000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:11888400-11891200	Enhancers	Brain Substantia Nigra	brain
23	chr2:11888400-11891400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:11888400-11891400	Enhancers	Left Ventricle	heart
25	chr2:11888400-11891400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:11888400-11891600	Enhancers	Fetal Thymus	thymus
27	chr2:11888400-11891600	Enhancers	Dnd41	blood
28	chr2:11888400-11891800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:11888400-11893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:11888400-11893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:11888400-11893600	Weak transcription	HSMM	muscle
32	chr2:11888400-11895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:11888600-11890600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:11888600-11890600	Enhancers	Fetal Brain Female	brain
36	chr2:11888600-11890800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:11888600-11890800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:11888600-11890800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:11888600-11890800	Weak transcription	Stomach Mucosa	stomach
40	chr2:11888600-11891400	Enhancers	Brain Hippocampus Middle	brain
41	chr2:11888600-11891600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:11888600-11891600	Enhancers	NH-A	brain
43	chr2:11888600-11893000	Weak transcription	Fetal Lung	lung
44	chr2:11888600-11893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:11888600-11893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:11888600-11894000	Enhancers	Brain Anterior Caudate	brain
47	chr2:11888800-11891200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:11888800-11891800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:11889000-11890800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:11889000-11890800	Weak transcription	Pancreas	Pancrea

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