Variant report

Variant	rs11949720
Chromosome Location	chr5:115143967-115143968
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	chr5:115142644..115144200-chr5:115144914..115146668,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10519433	1.00[AMR][1000 genomes]
rs11241338	1.00[AMR][1000 genomes]
rs1500270	1.00[AMR][1000 genomes]
rs34916121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36055497	0.85[AMR][1000 genomes]
rs3984985	1.00[AMR][1000 genomes]
rs58119889	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58236192	1.00[AMR][1000 genomes]
rs61348187	0.88[AFR][1000 genomes]
rs73253144	1.00[AMR][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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115131400-115149200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:115134200-115149600	Weak transcription	Ovary	ovary
3	chr5:115134400-115146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:115134400-115147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:115136800-115144200	Weak transcription	Fetal Brain Male	brain
6	chr5:115137800-115147200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:115138000-115147800	Weak transcription	Fetal Stomach	stomach
8	chr5:115138200-115145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:115138200-115146200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:115138200-115149200	Weak transcription	Aorta	Aorta
11	chr5:115138200-115149800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:115138400-115149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:115138400-115150800	Weak transcription	Brain Substantia Nigra	brain
14	chr5:115138400-115151000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:115138600-115145800	Strong transcription	Adipose Nuclei	Adipose
16	chr5:115139200-115149400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:115139200-115149600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:115139200-115149600	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:115139400-115144000	Weak transcription	Brain Anterior Caudate	brain
20	chr5:115139400-115145600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:115139800-115149800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:115140400-115149600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:115140600-115147000	Strong transcription	Fetal Brain Female	brain
24	chr5:115140800-115147000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:115141000-115147800	Weak transcription	Fetal Kidney	kidney
26	chr5:115141400-115144800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:115141800-115148000	Genic enhancers	Liver	Liver
28	chr5:115142400-115144200	Weak transcription	Brain Germinal Matrix	brain
29	chr5:115142800-115144200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:115142800-115144400	Weak transcription	Fetal Lung	lung
31	chr5:115142800-115149200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:115143000-115150400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:115143200-115149400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:115143200-115149600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:115143200-115149600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:115143600-115146200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:115143600-115146400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:115143600-115147400	Weak transcription	HepG2	liver
39	chr5:115143800-115144800	Enhancers	Placenta	Placenta
40	chr5:115143800-115144800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr5:115143800-115145200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:115143800-115146000	Strong transcription	Fetal Muscle Leg	muscle
43	chr5:115143800-115149400	Weak transcription	Brain Angular Gyrus	brain
44	chr5:115143800-115149800	Weak transcription	H9 Cell Line	embryonic stem cell

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