Variant report

Variant	rs55975366
Chromosome Location	chr14:69535815-69535816
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:
2	chr14:69535059..69538087-chr14:69542567..69545088,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11626985	0.93[EUR][1000 genomes]
rs11627004	0.93[EUR][1000 genomes]
rs11627476	0.93[EUR][1000 genomes]
rs12147222	0.93[EUR][1000 genomes]
rs1884631	0.83[ASN][1000 genomes]
rs1950712	0.83[ASN][1000 genomes]
rs2176255	0.93[EUR][1000 genomes]
rs2877521	0.83[ASN][1000 genomes]
rs2877522	0.83[ASN][1000 genomes]
rs2877523	0.83[ASN][1000 genomes]
rs3742905	0.93[EUR][1000 genomes]
rs56097892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56274826	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56868917	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720212	0.93[EUR][1000 genomes]
rs72720218	0.93[EUR][1000 genomes]
rs72720225	0.93[EUR][1000 genomes]
rs72720241	0.83[EUR][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:124 , 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	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
3	chr14:69518800-69537000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr14:69519000-69537000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:69519000-69537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
7	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
13	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
14	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
19	chr14:69526800-69545600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
21	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
22	chr14:69528000-69536200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:69528200-69539600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:69528600-69539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:69528600-69540200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:69528600-69545400	Weak transcription	Gastric	stomach
27	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
30	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:69528800-69536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:69529200-69538600	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:69529200-69539200	Weak transcription	Lung	lung
35	chr14:69529200-69539400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:69529200-69539400	Weak transcription	Brain Anterior Caudate	brain
37	chr14:69529200-69539400	Weak transcription	Brain Substantia Nigra	brain
38	chr14:69529200-69539600	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:69529200-69539600	Weak transcription	Fetal Brain Female	brain
40	chr14:69529200-69540000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:69529200-69541200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:69529400-69540200	Weak transcription	Colonic Mucosa	Colon
43	chr14:69529600-69544600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:69529600-69545800	Weak transcription	Small Intestine	intestine
45	chr14:69529800-69537600	Weak transcription	Left Ventricle	heart
46	chr14:69529800-69540000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:69530000-69539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:69530200-69536000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:69530400-69539400	Weak transcription	Thymus	Thymus
50	chr14:69530600-69539800	Weak transcription	Fetal Heart	heart

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