Variant report

Variant	rs55714227
Chromosome Location	chr5:14715329-14715330
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	chr5:14704921..14709594-chr5:14711258..14715329,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11952550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11953822	1.00[AMR][1000 genomes]
rs11956097	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55957515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56044433	1.00[AMR][1000 genomes]
rs56155042	1.00[AMR][1000 genomes]
rs56297478	1.00[AMR][1000 genomes]
rs56350972	1.00[AMR][1000 genomes]
rs60753214	0.83[AMR][1000 genomes]
rs73749521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749593	1.00[AMR][1000 genomes]
rs73749595	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749596	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73752121	0.83[AMR][1000 genomes]
rs73752126	1.00[AMR][1000 genomes]
rs73752131	1.00[AMR][1000 genomes]
rs73752132	1.00[AMR][1000 genomes]
rs73752133	1.00[AMR][1000 genomes]
rs73752135	1.00[AMR][1000 genomes]
rs73752138	1.00[AMR][1000 genomes]
rs73752139	1.00[AMR][1000 genomes]
rs73752140	1.00[AMR][1000 genomes]
rs7710316	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14690800-14717200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:14691000-14722200	Weak transcription	Stomach Mucosa	stomach
4	chr5:14691200-14720400	Weak transcription	Psoas Muscle	Psoas
5	chr5:14694000-14717800	Weak transcription	Fetal Kidney	kidney
6	chr5:14696600-14717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:14696800-14718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:14700000-14723800	Weak transcription	Small Intestine	intestine
10	chr5:14701400-14716000	Strong transcription	Fetal Stomach	stomach
11	chr5:14701400-14717000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr5:14701600-14716000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:14704400-14717000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr5:14704400-14719000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:14704800-14715400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:14705400-14717000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr5:14705400-14717400	Strong transcription	A549	lung
18	chr5:14705600-14717200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:14705600-14718400	Strong transcription	Fetal Brain Female	brain
20	chr5:14706600-14717000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:14707000-14715800	Strong transcription	Lung	lung
22	chr5:14707200-14716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:14707200-14717200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:14707200-14717200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:14707200-14718000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:14707200-14718600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:14707400-14716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:14707400-14720200	Strong transcription	Osteobl	bone
29	chr5:14707400-14720400	Weak transcription	NHDF-Ad	bronchial
30	chr5:14707600-14716400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:14707600-14718000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:14707600-14718400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:14707800-14716400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:14707800-14717800	Strong transcription	Adipose Nuclei	Adipose
35	chr5:14707800-14718400	Strong transcription	Thymus	Thymus
36	chr5:14708000-14716400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:14708200-14716000	Strong transcription	Colonic Mucosa	Colon
38	chr5:14708200-14718600	Strong transcription	Dnd41	blood
39	chr5:14708400-14716400	Strong transcription	Liver	Liver
40	chr5:14708400-14717800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr5:14708600-14720200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:14709200-14718200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:14709400-14716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:14709400-14716200	Strong transcription	Ovary	ovary
45	chr5:14709400-14718200	Strong transcription	HepG2	liver
46	chr5:14709600-14716000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr5:14709800-14717600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:14709800-14718200	Strong transcription	Primary T cells from cord blood	blood
49	chr5:14709800-14718400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:14709800-14718600	Strong transcription	Primary T cells fromperipheralblood	blood

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