Variant report

Variant	rs74060186
Chromosome Location	chr14:69279271-69279272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68713706..68716273-chr14:69277811..69279687,2	MCF-7	breast:
2	chr14:68717006..68718787-chr14:69279079..69280637,2	MCF-7	breast:
3	chr14:68281799..68283373-chr14:69277019..69279798,2	MCF-7	breast:
4	chr14:68775195..68777940-chr14:69277333..69279325,2	MCF-7	breast:
5	chr14:68705377..68708933-chr14:69277914..69280943,3	MCF-7	breast:
6	chr14:68734764..68737197-chr14:69278376..69281274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55958232	0.97[AFR][1000 genomes]
rs56392804	0.97[AFR][1000 genomes]
rs74060163	0.94[AFR][1000 genomes]
rs74060165	0.94[AFR][1000 genomes]
rs74060166	0.97[AFR][1000 genomes]
rs74060175	0.97[AFR][1000 genomes]
rs74060177	0.97[AFR][1000 genomes]
rs74060183	0.97[AFR][1000 genomes]
rs74060197	0.84[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
4	chr14:69274000-69281000	Weak transcription	Aorta	Aorta
5	chr14:69274000-69281000	Weak transcription	Fetal Brain Male	brain
6	chr14:69274200-69279400	Weak transcription	GM12878-XiMat	blood
7	chr14:69274200-69279600	Weak transcription	Thymus	Thymus
8	chr14:69274200-69280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:69274200-69280000	Weak transcription	Brain Substantia Nigra	brain
10	chr14:69274200-69280000	Weak transcription	Psoas Muscle	Psoas
11	chr14:69274200-69280800	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:69274200-69281000	Weak transcription	Brain Angular Gyrus	brain
13	chr14:69274400-69279400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:69274400-69279600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:69274400-69280800	Weak transcription	K562	blood
16	chr14:69274400-69281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:69274400-69281000	Weak transcription	Osteobl	bone
18	chr14:69274600-69280000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:69274600-69280000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:69274600-69280400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:69274600-69280400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:69274600-69280400	Weak transcription	NHDF-Ad	bronchial
23	chr14:69274800-69280000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:69274800-69280000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:69274800-69280000	Weak transcription	HepG2	liver
26	chr14:69274800-69280200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:69274800-69280800	Weak transcription	HSMM	muscle
28	chr14:69275000-69280000	Weak transcription	Left Ventricle	heart
29	chr14:69275200-69279800	Weak transcription	Small Intestine	intestine
30	chr14:69275200-69280000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:69275200-69280000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:69275200-69280000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:69275400-69279800	Weak transcription	Liver	Liver
34	chr14:69275600-69279400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:69275600-69279800	Weak transcription	Colonic Mucosa	Colon
36	chr14:69275600-69280200	Weak transcription	HSMMtube	muscle
37	chr14:69275800-69279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:69275800-69280000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:69275800-69280000	Weak transcription	Stomach Mucosa	stomach
40	chr14:69275800-69281000	Weak transcription	Gastric	stomach
41	chr14:69276200-69279400	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:69276400-69279400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:69276400-69280000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:69276400-69280000	Weak transcription	Fetal Kidney	kidney
45	chr14:69276400-69280000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:69276400-69280200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:69276400-69280400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:69276400-69280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:69276600-69279800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:69276600-69279800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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