Variant report

Variant	rs60853415
Chromosome Location	chr14:81999768-81999769
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81686218..81688258-chr14:81998585..82000595,3	MCF-7	breast:
2	chr14:81998367..82001361-chr15:65596794..65598307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000200156	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1951606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951608	1.00[AMR][1000 genomes]
rs1957540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443544	1.00[AMR][1000 genomes]
rs59609515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59619942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60125402	1.00[AMR][1000 genomes]
rs60508956	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1803387	chr14:81995306-82009830	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1803430	chr14:81995306-82009830	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81997600-82000200	Active TSS	Pancreas	Pancrea
2	chr14:81998200-82000800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:81998200-82001400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:81998600-81999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:81998600-81999800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:81998600-82000400	Active TSS	HSMM	muscle
7	chr14:81998600-82000400	Active TSS	HSMMtube	muscle
8	chr14:81998600-82000600	Active TSS	A549	lung
9	chr14:81998600-82000600	Active TSS	GM12878-XiMat	blood
10	chr14:81998600-82000800	Active TSS	Psoas Muscle	Psoas
11	chr14:81998800-81999800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:81998800-81999800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr14:81998800-81999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:81998800-81999800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:81998800-81999800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr14:81998800-82000200	Active TSS	Right Atrium	heart
17	chr14:81998800-82000400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:81998800-82001000	Active TSS	K562	blood
19	chr14:81999000-81999800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:81999000-81999800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr14:81999000-81999800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr14:81999000-81999800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:81999000-81999800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:81999000-81999800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:81999000-82000000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr14:81999000-82000000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr14:81999000-82000200	Active TSS	Right Ventricle	heart
28	chr14:81999000-82000200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:81999000-82000600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:81999000-82000600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:81999000-82000800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:81999000-82000800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:81999000-82000800	Active TSS	Fetal Intestine Small	intestine
34	chr14:81999000-82000800	Active TSS	Fetal Stomach	stomach
35	chr14:81999000-82000800	Active TSS	HMEC	breast
36	chr14:81999000-82000800	Active TSS	NHDF-Ad	bronchial
37	chr14:81999000-82001000	Active TSS	NHLF	lung
38	chr14:81999200-81999800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr14:81999200-81999800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr14:81999200-81999800	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr14:81999200-81999800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr14:81999200-81999800	Flanking Active TSS	Fetal Brain Female	brain
43	chr14:81999200-81999800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr14:81999200-81999800	Flanking Active TSS	Thymus	Thymus
45	chr14:81999200-82000200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:81999200-82000200	Active TSS	Aorta	Aorta
47	chr14:81999200-82000200	Active TSS	Colonic Mucosa	Colon
48	chr14:81999200-82000200	Active TSS	Stomach Mucosa	stomach
49	chr14:81999200-82000400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:81999200-82000400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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