Variant report

Variant	rs849520
Chromosome Location	chr5:106881547-106881548
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	chr5:106879004..106882642-chr5:106901897..106905418,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1471041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs149155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs163614	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs163889	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs163890	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs164697	0.90[ASN][1000 genomes]
rs164850	0.90[ASN][1000 genomes]
rs164851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs164971	0.90[ASN][1000 genomes]
rs1966892	1.00[CHB][hapmap]
rs341273	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs341275	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs342602	0.97[EUR][1000 genomes]
rs342605	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs342606	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs352603	0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs352604	0.85[EUR][1000 genomes]
rs352606	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs352607	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs352610	0.93[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs352612	0.90[ASN][1000 genomes]
rs352613	0.90[ASN][1000 genomes]
rs395904	0.90[ASN][1000 genomes]
rs39918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs457369	0.85[EUR][1000 genomes]
rs57889678	0.89[ASN][1000 genomes]
rs58772568	0.89[ASN][1000 genomes]
rs59747234	0.89[ASN][1000 genomes]
rs60575744	1.00[ASN][1000 genomes]
rs61200118	0.89[ASN][1000 genomes]
rs61415460	0.89[ASN][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	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106873600-106882600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106875000-106882800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:106875000-106885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:106877400-106883400	Enhancers	Fetal Heart	heart
5	chr5:106878200-106883200	Enhancers	Fetal Lung	lung
6	chr5:106878400-106882600	Weak transcription	Dnd41	blood
7	chr5:106878600-106881600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:106878600-106881600	Enhancers	Stomach Mucosa	stomach
9	chr5:106878600-106882000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:106878800-106891600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:106879000-106882800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:106879000-106882800	Weak transcription	Thymus	Thymus
13	chr5:106879000-106884400	Weak transcription	HSMMtube	muscle
14	chr5:106879000-106884400	Weak transcription	NHDF-Ad	bronchial
15	chr5:106879000-106893000	Weak transcription	Psoas Muscle	Psoas
16	chr5:106879000-106899200	Weak transcription	Fetal Stomach	stomach
17	chr5:106879200-106884200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:106879400-106884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:106879400-106888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:106879400-106888800	Weak transcription	HMEC	breast
21	chr5:106879600-106888000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:106879800-106881600	Enhancers	A549	lung
23	chr5:106879800-106881800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:106879800-106882600	Weak transcription	HSMM	muscle
25	chr5:106879800-106883000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:106879800-106884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:106879800-106887800	Weak transcription	NHLF	lung
28	chr5:106879800-106888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:106880000-106881600	Enhancers	Rectal Smooth Muscle	rectum
30	chr5:106880000-106885200	Weak transcription	Esophagus	oesophagus
31	chr5:106880200-106884600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:106880200-106884600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:106880200-106885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:106880200-106889000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:106880400-106884400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:106880400-106884600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:106880400-106885200	Weak transcription	Aorta	Aorta
38	chr5:106880400-106885400	Weak transcription	Pancreas	Pancrea
39	chr5:106880600-106882200	Enhancers	Left Ventricle	heart
40	chr5:106880600-106886800	Weak transcription	Right Ventricle	heart
41	chr5:106880800-106882200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:106880800-106882800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:106880800-106884200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:106881000-106882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:106881000-106882200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:106881200-106883000	Enhancers	Brain Anterior Caudate	brain
47	chr5:106881200-106884400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:106881400-106881600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr5:106881400-106881600	Enhancers	Colon Smooth Muscle	Colon
50	chr5:106881400-106883000	Enhancers	Brain Cingulate Gyrus	brain

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