Variant report

Variant	rs60475452
Chromosome Location	chr14:55479896-55479897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55478452..55481298-chr14:55482952..55484497,2	K562	blood:
2	chr14:55477843..55481656-chr14:55484735..55486972,4	K562	blood:
3	chr14:55479188..55481121-chr14:55516830..55518551,2	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17127987	1.00[AMR][1000 genomes]
rs17128017	1.00[AMR][1000 genomes]
rs60407360	1.00[AMR][1000 genomes]
rs7153566	1.00[AMR][1000 genomes]
rs73278756	1.00[AMR][1000 genomes]
rs73278762	1.00[AMR][1000 genomes]
rs73278771	1.00[AMR][1000 genomes]
rs73278793	1.00[AMR][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
4	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
5	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
6	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:55430400-55484000	Weak transcription	Lung	lung
8	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
15	chr14:55442600-55480600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
17	chr14:55443400-55492200	Weak transcription	NHLF	lung
18	chr14:55444200-55480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:55455800-55486600	Weak transcription	HepG2	liver
22	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:55458400-55492200	Weak transcription	NH-A	brain
24	chr14:55461200-55485200	Strong transcription	Dnd41	blood
25	chr14:55461600-55483200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:55464400-55486800	Weak transcription	Fetal Heart	heart
27	chr14:55465200-55480400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:55467800-55486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:55468600-55492400	Weak transcription	Osteobl	bone
30	chr14:55468800-55481600	Weak transcription	HMEC	breast
31	chr14:55468800-55492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:55471000-55480600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:55471800-55480800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:55472000-55483800	Weak transcription	Brain Substantia Nigra	brain
35	chr14:55472000-55493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:55472200-55483800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:55472200-55486600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:55472200-55491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:55472400-55489800	Weak transcription	NHEK	skin
40	chr14:55472400-55492000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:55472400-55492400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:55472400-55492400	Weak transcription	Thymus	Thymus
43	chr14:55472400-55492800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:55472600-55492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:55472600-55492200	Weak transcription	Primary T cells from cord blood	blood
46	chr14:55472800-55491000	Weak transcription	Fetal Intestine Small	intestine
47	chr14:55472800-55492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:55473000-55493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:55474400-55480400	Strong transcription	A549	lung
50	chr14:55475000-55481200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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