Variant report

Variant	rs194720
Chromosome Location	chr14:69321523-69321524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69282210..69284436-chr14:69319969..69321576,2	MCF-7	breast:
2	chr14:69259708..69263054-chr14:69320359..69321973,3	MCF-7	breast:
3	chr14:69319896..69323724-chr14:69442717..69445790,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs388927	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899265	0.86[CHB][hapmap]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
2	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
3	chr14:69310800-69321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:69310800-69331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:69310800-69332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:69310800-69332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:69310800-69336400	Weak transcription	NHLF	lung
8	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
9	chr14:69311000-69331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:69312000-69332000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:69317000-69323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:69319800-69326200	Enhancers	Placenta	Placenta
13	chr14:69320000-69331000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:69320400-69321600	Enhancers	Stomach Smooth Muscle	stomach
15	chr14:69320400-69322400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:69320400-69322600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:69320400-69322600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:69320400-69322600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69320600-69322400	Strong transcription	HSMM	muscle
20	chr14:69320600-69322600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:69320600-69323400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:69320800-69332200	Weak transcription	NHEK	skin
24	chr14:69321000-69321600	Enhancers	Osteobl	bone
25	chr14:69321000-69322400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:69321000-69322600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:69321000-69323000	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:69321000-69329800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:69321200-69321600	Bivalent Enhancer	HepG2	liver
30	chr14:69321200-69321600	Weak transcription	NH-A	brain
31	chr14:69321200-69322200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:69321200-69323400	Strong transcription	HMEC	breast
33	chr14:69321200-69332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:69321200-69338000	Weak transcription	Gastric	stomach
35	chr14:69321400-69321800	Flanking Active TSS	K562	blood
36	chr14:69321400-69323000	Weak transcription	Fetal Stomach	stomach
37	chr14:69321400-69323000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:69321400-69330800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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