Variant report

Variant	rs72718270
Chromosome Location	chr14:69506772-69506773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69502361..69504492-chr14:69504635..69507504,3	MCF-7	breast:
2	chr14:69504745..69507053-chr14:69509221..69511186,2	K562	blood:
3	chr14:69504422..69507358-chr14:69508879..69511159,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11623999	1.00[AFR][1000 genomes]
rs45577339	1.00[AFR][1000 genomes]
rs7144704	1.00[AFR][1000 genomes]
rs72718203	1.00[ASN][1000 genomes]
rs72718208	1.00[ASN][1000 genomes]
rs72718263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72718279	1.00[AFR][1000 genomes]
rs72720290	1.00[AFR][1000 genomes]
rs8008141	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69502200-69508600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:69502600-69508000	Weak transcription	Fetal Kidney	kidney
3	chr14:69503400-69506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:69503600-69506800	Enhancers	Stomach Smooth Muscle	stomach
5	chr14:69503600-69507200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:69503600-69507200	Enhancers	NH-A	brain
7	chr14:69503800-69507200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:69504000-69508400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:69504600-69506800	Enhancers	Colon Smooth Muscle	Colon
10	chr14:69504800-69508400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69504800-69508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69504800-69509600	Weak transcription	Pancreas	Pancrea
13	chr14:69505000-69508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:69505200-69509600	Weak transcription	Spleen	Spleen
15	chr14:69505400-69506800	Enhancers	HMEC	breast
16	chr14:69505400-69510000	Weak transcription	Fetal Heart	heart
17	chr14:69505400-69510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:69505800-69508800	Weak transcription	Ovary	ovary
19	chr14:69505800-69509200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:69505800-69509200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:69505800-69509600	Weak transcription	Esophagus	oesophagus
22	chr14:69505800-69509600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:69505800-69509800	Weak transcription	Placenta	Placenta
24	chr14:69505800-69509800	Weak transcription	Left Ventricle	heart
25	chr14:69505800-69509800	Weak transcription	Right Atrium	heart
26	chr14:69505800-69510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:69505800-69510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:69506000-69507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69506000-69507200	Enhancers	HUVEC	blood vessel
30	chr14:69506000-69508600	Weak transcription	Brain Angular Gyrus	brain
31	chr14:69506000-69508800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:69506000-69508800	Weak transcription	Brain Anterior Caudate	brain
33	chr14:69506000-69509400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:69506000-69509400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:69506000-69511200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:69506200-69507000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:69506200-69508600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:69506200-69508600	Weak transcription	Adipose Nuclei	Adipose
39	chr14:69506200-69509600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:69506200-69510000	Weak transcription	Right Ventricle	heart
41	chr14:69506400-69506800	Enhancers	NHEK	skin
42	chr14:69506400-69507000	Weak transcription	Aorta	Aorta
43	chr14:69506400-69508400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:69506400-69508800	Weak transcription	NHDF-Ad	bronchial
45	chr14:69506400-69509200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:69506400-69509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:69506400-69509600	Weak transcription	Psoas Muscle	Psoas
48	chr14:69506400-69509800	Weak transcription	NHLF	lung
49	chr14:69506400-69510200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:69506400-69510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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