Variant report

Variant	rs2238169
Chromosome Location	chr14:73026117-73026118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12434785	0.85[CHB][hapmap]
rs12886899	0.80[EUR][1000 genomes]
rs2283371	0.90[CHB][hapmap]
rs2283374	0.80[CHB][hapmap]
rs7141877	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146783	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv977623	chr14:73020406-73026359	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv518320	chr14:73023436-73032103	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1047057	chr14:73024744-73221375	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
2	chr14:73014800-73026200	Weak transcription	Right Ventricle	heart
3	chr14:73024000-73027200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:73024200-73027400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:73024200-73027400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:73024200-73028600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:73024400-73027000	Enhancers	NHLF	lung
8	chr14:73024400-73027200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:73024400-73027400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:73024400-73027400	Enhancers	NH-A	brain
11	chr14:73024600-73027200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:73024800-73027400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:73025000-73026200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr14:73025000-73026200	Enhancers	Ovary	ovary
15	chr14:73025000-73026400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:73025000-73026400	Enhancers	Fetal Thymus	thymus
17	chr14:73025000-73026600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:73025000-73026600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:73025000-73026800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:73025000-73026800	Enhancers	Psoas Muscle	Psoas
21	chr14:73025000-73027000	Enhancers	Fetal Brain Female	brain
22	chr14:73025000-73027200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:73025000-73027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:73025000-73027400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:73025000-73027400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:73025000-73027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:73025200-73026200	Enhancers	Primary B cells from cord blood	blood
28	chr14:73025200-73026400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr14:73025200-73026400	Enhancers	Brain Anterior Caudate	brain
30	chr14:73025200-73026400	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:73025200-73026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:73025200-73026800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:73025200-73026800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:73025200-73026800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:73025200-73027000	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:73025400-73026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:73025400-73026200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:73025400-73026400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:73025400-73026400	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:73025400-73027400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:73025600-73026200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:73025600-73026200	Weak transcription	Fetal Brain Male	brain
43	chr14:73025600-73026200	Enhancers	NHDF-Ad	bronchial
44	chr14:73025600-73026400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:73025600-73026400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:73025600-73026400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:73025600-73026400	Enhancers	Brain Angular Gyrus	brain
48	chr14:73025600-73026400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:73025600-73026600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:73025600-73026600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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