Variant report

Variant	rs944458
Chromosome Location	chr14:64696817-64696818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64694405..64698467-chr14:64698699..64701055,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1048315	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1152576	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1152583	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1152587	0.89[EUR][1000 genomes]
rs1255998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1256064	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1256069	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35060163	0.91[ASN][1000 genomes]

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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1050378	chr14:64686543-64703012	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
2	chr14:64664200-64698600	Weak transcription	HMEC	breast
3	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:64674600-64699800	Strong transcription	Liver	Liver
6	chr14:64674800-64697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:64674800-64698400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:64674800-64699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:64674800-64700000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
11	chr14:64676800-64698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:64677000-64698600	Weak transcription	NHLF	lung
13	chr14:64677000-64698800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr14:64677000-64699400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:64677200-64698600	Weak transcription	NHDF-Ad	bronchial
16	chr14:64677400-64697800	Strong transcription	Fetal Stomach	stomach
17	chr14:64677600-64698200	Strong transcription	Colonic Mucosa	Colon
18	chr14:64679800-64698200	Weak transcription	HUVEC	blood vessel
19	chr14:64679800-64698800	Weak transcription	NH-A	brain
20	chr14:64681600-64698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:64684400-64699600	Strong transcription	Placenta	Placenta
22	chr14:64687800-64698200	Weak transcription	HSMM	muscle
23	chr14:64688400-64697200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:64688600-64699600	Weak transcription	Right Atrium	heart
25	chr14:64688600-64700000	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:64688600-64700200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr14:64688800-64699800	Weak transcription	Brain Substantia Nigra	brain
28	chr14:64688800-64710600	Weak transcription	Fetal Heart	heart
29	chr14:64689200-64705400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:64690000-64697400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:64690200-64711200	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:64690600-64697800	Weak transcription	Stomach Mucosa	stomach
33	chr14:64691400-64699600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:64691600-64700800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:64691600-64701000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:64691800-64701400	Weak transcription	NHEK	skin
37	chr14:64692200-64701000	Weak transcription	Brain Angular Gyrus	brain
38	chr14:64692400-64697200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:64692400-64697400	Strong transcription	Left Ventricle	heart
40	chr14:64692400-64699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:64692400-64700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:64692400-64701200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:64692600-64698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:64692600-64700400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:64692800-64697000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:64692800-64698000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:64693200-64697600	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:64693600-64697000	Strong transcription	Esophagus	oesophagus
49	chr14:64693800-64699200	Strong transcription	Fetal Thymus	thymus
50	chr14:64694400-64698800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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