Variant report

Variant	rs74050278
Chromosome Location	chr14:55471587-55471588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55467897..55470459-chr14:55470545..55472401,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCH1-1	chr14:55471531-55472405	NONHSAT036981

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55821645	1.00[AMR][1000 genomes]
rs56313126	1.00[AMR][1000 genomes]
rs74050233	1.00[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	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	nsv976342	chr14:55468718-55474623	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
2	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55419800-55480400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:55420000-55471600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
6	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
7	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
8	chr14:55424200-55476800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:55427200-55477400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:55429600-55479000	Weak transcription	Fetal Brain Female	brain
12	chr14:55430400-55484000	Weak transcription	Lung	lung
13	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:55439800-55479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
21	chr14:55442600-55480600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
23	chr14:55443400-55492200	Weak transcription	NHLF	lung
24	chr14:55444000-55471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:55444200-55480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:55450000-55479800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:55454000-55471600	Weak transcription	NHEK	skin
29	chr14:55454000-55474400	Weak transcription	NHDF-Ad	bronchial
30	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:55454400-55473800	Weak transcription	Adipose Nuclei	Adipose
32	chr14:55454800-55478800	Weak transcription	Fetal Brain Male	brain
33	chr14:55454800-55479000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:55455800-55479600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:55455800-55486600	Weak transcription	HepG2	liver
36	chr14:55458400-55471600	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:55458400-55471600	Weak transcription	HUVEC	blood vessel
38	chr14:55458400-55477000	Weak transcription	Fetal Lung	lung
39	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:55458400-55492200	Weak transcription	NH-A	brain
41	chr14:55460800-55473800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:55461200-55485200	Strong transcription	Dnd41	blood
43	chr14:55461600-55483200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55464400-55486800	Weak transcription	Fetal Heart	heart
45	chr14:55465200-55478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:55465200-55480400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:55465600-55474200	Weak transcription	Brain Anterior Caudate	brain
48	chr14:55466600-55473800	Weak transcription	Right Ventricle	heart
49	chr14:55466600-55474200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:55466800-55471600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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