Variant report

Variant	rs72718228
Chromosome Location	chr14:69475527-69475528
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	chr14:69463735..69466079-chr14:69475219..69476894,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12147311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17106677	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55711438	0.83[ASN][1000 genomes]
rs7151159	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72718222	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9888604	0.86[ASN][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69472400-69475800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:69472400-69480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:69472600-69475600	Weak transcription	Placenta	Placenta
4	chr14:69472800-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
7	chr14:69473000-69476800	Weak transcription	Hela-S3	cervix
8	chr14:69473000-69477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:69473000-69477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:69473000-69479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:69473000-69479600	Weak transcription	NHLF	lung
12	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
17	chr14:69473200-69477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:69473200-69480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:69473200-69480400	Weak transcription	HUVEC	blood vessel
20	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:69473400-69475600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:69474000-69480400	Weak transcription	HepG2	liver
24	chr14:69474600-69475800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:69474600-69475800	Enhancers	Fetal Stomach	stomach
26	chr14:69474800-69476000	Enhancers	Fetal Muscle Leg	muscle
27	chr14:69474800-69477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:69475000-69475600	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:69475000-69475800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:69475000-69476000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:69475200-69475600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:69475200-69475600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69475200-69475600	Enhancers	Colon Smooth Muscle	Colon
34	chr14:69475200-69475600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:69475200-69475600	Enhancers	HSMMtube	muscle
36	chr14:69475200-69475600	Enhancers	Osteobl	bone
37	chr14:69475200-69475800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:69475200-69475800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:69475200-69475800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:69475200-69475800	Enhancers	Adipose Nuclei	Adipose
41	chr14:69475200-69475800	Enhancers	Fetal Lung	lung
42	chr14:69475400-69475600	Enhancers	Stomach Mucosa	stomach
43	chr14:69475400-69475800	Enhancers	Fetal Kidney	kidney
44	chr14:69475400-69475800	Enhancers	A549	lung
45	chr14:69475400-69475800	Enhancers	NH-A	brain
46	chr14:69475400-69476000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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