Variant report

Variant	rs2170293
Chromosome Location	chr14:65719131-65719132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
2	chr14:65687724..65702236-chr14:65717995..65729217,67	MCF-7	breast:
3	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
4	chr14:65716874..65719656-chr14:65720391..65721945,2	MCF-7	breast:
5	chr14:65718344..65729728-chr14:65875413..65882756,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255002	Chromatin interaction
ENSG00000033170	Chromatin interaction
ENSG00000258878	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1256486	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1256494	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1256500	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7146361	0.80[EUR][1000 genomes]
rs8016294	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
3	nsv976853	chr14:65708032-65723266	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65711600-65722600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:65712800-65721600	Weak transcription	Primary T cells from cord blood	blood
4	chr14:65713000-65722400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:65713600-65719200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
7	chr14:65716200-65719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:65716200-65721800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:65716600-65722000	Weak transcription	Esophagus	oesophagus
10	chr14:65716800-65723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:65717000-65720000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65717000-65720800	Weak transcription	Brain Anterior Caudate	brain
13	chr14:65717000-65720800	Weak transcription	A549	lung
14	chr14:65717000-65721800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:65717200-65720200	Weak transcription	Brain Substantia Nigra	brain
16	chr14:65717200-65720800	Weak transcription	HepG2	liver
17	chr14:65717200-65721800	Weak transcription	Brain Angular Gyrus	brain
18	chr14:65717200-65721800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:65717600-65719400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:65717600-65721600	Weak transcription	Pancreas	Pancrea
21	chr14:65718200-65719400	Enhancers	NHDF-Ad	bronchial
22	chr14:65718200-65721600	Weak transcription	HUVEC	blood vessel
23	chr14:65718400-65720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:65718400-65721600	Weak transcription	Stomach Mucosa	stomach
25	chr14:65718400-65721600	Weak transcription	NH-A	brain
26	chr14:65718600-65719200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:65718600-65719600	Weak transcription	Osteobl	bone
28	chr14:65718600-65720600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:65718600-65720800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:65718600-65721400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:65718600-65721600	Weak transcription	HSMM	muscle
32	chr14:65718600-65722000	Weak transcription	NHLF	lung
33	chr14:65718600-65722200	Weak transcription	Spleen	Spleen
34	chr14:65718600-65722400	Weak transcription	Gastric	stomach
35	chr14:65718800-65719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:65718800-65722200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:65718800-65725200	Enhancers	Placenta	Placenta
38	chr14:65719000-65721600	Enhancers	Hela-S3	cervix
39	chr14:65719000-65722000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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