Variant report

Variant	rs72718279
Chromosome Location	chr14:69533385-69533386
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	chr14:69527663..69529780-chr14:69532425..69536025,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11623999	1.00[AFR][1000 genomes]
rs45577339	1.00[AFR][1000 genomes]
rs7144704	1.00[AFR][1000 genomes]
rs72718263	1.00[AFR][1000 genomes]
rs72718270	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69518000-69533800	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
4	chr14:69518800-69537000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr14:69519000-69537000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:69519000-69537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
8	chr14:69519400-69534200	Strong transcription	Primary B cells from cord blood	blood
9	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:69520000-69534800	Strong transcription	Placenta	Placenta
11	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
16	chr14:69523400-69535600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:69523400-69535800	Weak transcription	Aorta	Aorta
18	chr14:69523600-69535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
20	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
22	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:69523800-69535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
26	chr14:69525800-69534400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:69526800-69545600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:69527000-69535600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
30	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
31	chr14:69527200-69535000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69527200-69535400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:69527200-69535600	Weak transcription	HUVEC	blood vessel
34	chr14:69527400-69535600	Weak transcription	NHLF	lung
35	chr14:69528000-69536200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:69528200-69533600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69528200-69539600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:69528600-69534600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:69528600-69535600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:69528600-69535800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:69528600-69539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:69528600-69540200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:69528600-69545400	Weak transcription	Gastric	stomach
44	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
47	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:69528800-69536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:69529200-69535400	Weak transcription	HMEC	breast

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