Variant report

Variant	rs28599647
Chromosome Location	chr14:79032827-79032828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78630297..78631161-chr14:79032243..79033558,5	MCF-7	breast:
2	chr14:78487645..78489732-chr14:79030970..79033718,2	MCF-7	breast:
3	chr14:78488084..78488705-chr14:79032639..79033141,2	MCF-7	breast:
4	chr14:79032628..79033178-chr14:79302963..79303483,2	MCF-7	breast:
5	chr14:78914552..78915389-chr14:79032436..79033359,2	K562	blood:
6	chr14:78607670..78608593-chr14:79032573..79033556,3	MCF-7	breast:
7	chr14:78914744..78915444-chr14:79032671..79033528,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10132085	1.00[EUR][1000 genomes]
rs10132376	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138731	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873318	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100534	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100535	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323467	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431997	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435491	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435510	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436134	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437077	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370825	1.00[EUR][1000 genomes]
rs28538310	1.00[EUR][1000 genomes]
rs35834627	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60650553	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160080	0.87[EUR][1000 genomes]
rs8018626	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79032000-79033000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr14:79032000-79033400	Enhancers	Fetal Muscle Leg	muscle
3	chr14:79032200-79033000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:79032200-79033000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:79032200-79033000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:79032400-79033000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:79032400-79033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:79032400-79033000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr14:79032400-79033000	Active TSS	Aorta	Aorta
10	chr14:79032400-79033000	Enhancers	Fetal Brain Male	brain
11	chr14:79032400-79033000	Enhancers	Pancreas	Pancrea
12	chr14:79032400-79033000	Active TSS	Right Ventricle	heart
13	chr14:79032400-79033000	Active TSS	Hela-S3	cervix
14	chr14:79032400-79033200	Active TSS	Brain Cingulate Gyrus	brain
15	chr14:79032400-79033200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:79032400-79033200	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:79032400-79034400	Enhancers	HUVEC	blood vessel
18	chr14:79032600-79033000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:79032600-79033000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:79032600-79033000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:79032600-79033000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:79032600-79033000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr14:79032600-79033000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:79032600-79033000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr14:79032600-79033000	Enhancers	Liver	Liver
26	chr14:79032600-79033000	Active TSS	Brain Substantia Nigra	brain
27	chr14:79032600-79033000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr14:79032600-79033000	Active TSS	Psoas Muscle	Psoas
29	chr14:79032600-79033000	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:79032600-79033000	Active TSS	Right Atrium	heart
31	chr14:79032600-79033000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:79032600-79033200	Enhancers	Primary B cells from peripheral blood	blood
33	chr14:79032600-79033200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:79032600-79033200	Active TSS	Brain Anterior Caudate	brain
35	chr14:79032600-79033200	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr14:79032600-79033200	Active TSS	Fetal Brain Female	brain
37	chr14:79032600-79033200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr14:79032600-79033200	Active TSS	HSMM	muscle
39	chr14:79032800-79033000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:79032800-79033000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:79032800-79033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:79032800-79033000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr14:79032800-79033000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr14:79032800-79033000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr14:79032800-79033000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:79032800-79033000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr14:79032800-79033000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:79032800-79033000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:79032800-79033000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:79032800-79033000	Active TSS	Duodenum Smooth Muscle	Duodenum

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