Variant report

Variant	rs11844654
Chromosome Location	chr14:55403701-55403702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10151058	0.97[EUR][1000 genomes]
rs11845908	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11845954	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11847254	0.97[EUR][1000 genomes]
rs1354	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28678578	0.97[EUR][1000 genomes]
rs4340245	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59220564	0.86[ASN][1000 genomes]
rs61744409	0.97[EUR][1000 genomes]
rs7146775	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7147147	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8016944	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9806068	0.86[ASN][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	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
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55389600-55406600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
3	chr14:55394400-55409600	Weak transcription	A549	lung
4	chr14:55394400-55428800	Weak transcription	HSMM	muscle
5	chr14:55395200-55414800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:55401200-55405800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:55401600-55405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:55402000-55404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
12	chr14:55402200-55405800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:55402400-55407800	Weak transcription	GM12878-XiMat	blood
14	chr14:55402400-55414200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:55402600-55408000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:55402600-55414800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:55402800-55407000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:55402800-55407200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:55402800-55409400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:55402800-55414800	Weak transcription	Hela-S3	cervix
21	chr14:55402800-55416000	Strong transcription	Dnd41	blood
22	chr14:55403000-55409600	Weak transcription	Primary B cells from cord blood	blood
23	chr14:55403000-55411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:55403000-55412200	Weak transcription	Fetal Stomach	stomach
25	chr14:55403000-55413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:55403000-55414800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:55403000-55449000	Weak transcription	Gastric	stomach
29	chr14:55403200-55405200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:55403200-55406800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:55403200-55407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:55403200-55411000	Weak transcription	HepG2	liver
33	chr14:55403200-55411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:55403200-55414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:55403200-55442600	Weak transcription	NHEK	skin
37	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
38	chr14:55403400-55413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:55403400-55421800	Weak transcription	HMEC	breast
40	chr14:55403600-55405200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:55403600-55405200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:55403600-55408400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:55403600-55423800	Weak transcription	K562	blood
44	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel

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