Variant report

Variant	rs74060137
Chromosome Location	chr14:69250584-69250585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr14:68641461..68644387-chr14:69250543..69254390,3	MCF-7	breast:
3	chr14:69247911..69250643-chr14:69303141..69305926,2	MCF-7	breast:
4	chr14:69213485..69215775-chr14:69249988..69251772,2	K562	blood:
5	chr14:69189213..69193249-chr14:69249817..69253831,4	MCF-7	breast:
6	chr14:69126667..69128513-chr14:69248793..69251052,2	MCF-7	breast:
7	chr14:69132402..69134048-chr14:69249526..69251366,2	MCF-7	breast:
8	chr14:69054452..69058686-chr14:69249853..69254831,4	MCF-7	breast:
9	chr14:69035875..69039894-chr14:69250533..69252732,3	MCF-7	breast:
10	chr14:69088224..69090068-chr14:69250540..69253091,2	MCF-7	breast:
11	chr14:69179231..69184883-chr14:69249659..69253927,5	MCF-7	breast:
12	chr14:68744987..68750260-chr14:69250111..69256950,7	MCF-7	breast:
13	chr14:68986084..68990937-chr14:69249749..69255560,7	MCF-7	breast:
14	chr14:69125612..69128109-chr14:69250025..69252097,2	MCF-7	breast:
15	chr14:69030740..69033327-chr14:69250048..69252689,2	K562	blood:
16	chr14:69022061..69023580-chr14:69250425..69252837,2	MCF-7	breast:
17	chr14:68607251..68609680-chr14:69249832..69252803,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56173737	0.86[AFR][1000 genomes]
rs57266336	0.86[AFR][1000 genomes]
rs57642360	0.90[AFR][1000 genomes]
rs74060130	0.86[AFR][1000 genomes]
rs74060132	0.86[AFR][1000 genomes]
rs74060133	0.86[AFR][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	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	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
2	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
3	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
4	chr14:69245600-69253200	Enhancers	Fetal Thymus	thymus
5	chr14:69247000-69252400	Enhancers	Liver	Liver
6	chr14:69247800-69251000	Weak transcription	GM12878-XiMat	blood
7	chr14:69248000-69250800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr14:69248000-69253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:69248000-69254000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:69248000-69254000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:69248200-69253200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69248200-69253400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:69248200-69253400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:69248200-69253400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:69248200-69253600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:69248200-69253600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:69248200-69254000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:69248200-69254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:69248200-69255800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:69248400-69250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:69248400-69250800	Weak transcription	HMEC	breast
22	chr14:69248400-69251000	Weak transcription	Osteobl	bone
23	chr14:69248400-69251200	Weak transcription	HSMM	muscle
24	chr14:69248400-69251600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:69248400-69252200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:69248400-69252400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:69248400-69253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:69248400-69253400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:69248400-69253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:69248400-69253600	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:69248400-69253600	Weak transcription	Psoas Muscle	Psoas
32	chr14:69248400-69253800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:69248400-69253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:69248400-69254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:69248400-69255800	Weak transcription	Brain Anterior Caudate	brain
36	chr14:69248600-69251000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69248600-69251000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:69248600-69251000	Weak transcription	Gastric	stomach
39	chr14:69248600-69251000	Weak transcription	NHDF-Ad	bronchial
40	chr14:69248600-69251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:69248600-69251400	Weak transcription	NHLF	lung
42	chr14:69248600-69253000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:69248600-69253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:69248600-69253200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:69248600-69253400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr14:69248600-69253600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:69248600-69253600	Weak transcription	HSMMtube	muscle
48	chr14:69248600-69253800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:69248600-69255000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:69248600-69255800	Weak transcription	Brain Angular Gyrus	brain

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