Variant report

Variant	rs59476175
Chromosome Location	chr14:71938821-71938822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71786904..71788917-chr14:71937053..71939016,2	MCF-7	breast:
2	chr14:71629289..71631183-chr14:71936634..71939360,2	MCF-7	breast:
3	chr14:71933082..71936913-chr14:71937476..71940950,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf57-1	chr14:71937646-71939072	ENSG00000251156

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55763740	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55893880	0.82[AFR][1000 genomes]
rs55898000	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56335120	0.82[AFR][1000 genomes]
rs56373366	1.00[AMR][1000 genomes]
rs57476769	0.82[AFR][1000 genomes]
rs59553790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60615402	1.00[AMR][1000 genomes]
rs61336865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060325	1.00[AMR][1000 genomes]
rs74060342	1.00[AMR][1000 genomes]
rs74060343	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060348	1.00[AMR][1000 genomes]
rs74060350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060360	1.00[AMR][1000 genomes]
rs74060363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060369	0.82[AFR][1000 genomes]
rs74060373	0.82[AFR][1000 genomes]
rs74060376	0.82[AFR][1000 genomes]
rs74060385	0.82[AFR][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71921800-71940600	Weak transcription	Spleen	Spleen
2	chr14:71922200-71944600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:71925800-71940600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:71927200-71940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:71928000-71939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:71928000-71940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:71928000-71940600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:71928000-71944800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:71929200-71964200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:71930200-71954200	Weak transcription	Gastric	stomach
11	chr14:71930200-71955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:71931200-71948800	Weak transcription	Aorta	Aorta
13	chr14:71934000-71940400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:71934200-71940200	Weak transcription	Brain Germinal Matrix	brain
15	chr14:71934200-71941400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:71934400-71946400	Weak transcription	Adipose Nuclei	Adipose
17	chr14:71934600-71940800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:71934800-71939200	Weak transcription	HSMM	muscle
19	chr14:71934800-71939200	Weak transcription	NH-A	brain
20	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:71936200-71942400	Weak transcription	Primary T cells from cord blood	blood
22	chr14:71936400-71951400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:71937200-71940200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:71937400-71940200	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:71937400-71940200	Weak transcription	Fetal Heart	heart
26	chr14:71937400-71940600	Weak transcription	Brain Substantia Nigra	brain
27	chr14:71937800-71939000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:71937800-71939000	Enhancers	Placenta	Placenta
29	chr14:71938000-71939000	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:71938200-71939000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:71938200-71939000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:71938200-71939000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:71938200-71939200	Flanking Active TSS	Hela-S3	cervix
34	chr14:71938200-71939400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:71938400-71939000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:71938400-71939000	Flanking Active TSS	GM12878-XiMat	blood
37	chr14:71938400-71939400	Enhancers	Brain Angular Gyrus	brain
38	chr14:71938400-71939400	Enhancers	Dnd41	blood
39	chr14:71938400-71939600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:71938400-71941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:71938400-71941200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:71938400-71941200	Enhancers	NHDF-Ad	bronchial
43	chr14:71938400-71943200	Enhancers	Osteobl	bone
44	chr14:71938400-71943600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:71938600-71939000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:71938600-71939000	Enhancers	Primary B cells from peripheral blood	blood
47	chr14:71938600-71939000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:71938600-71939000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:71938600-71939000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:71938600-71939200	Enhancers	Small Intestine	intestine

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