Variant report

Variant	rs61747434
Chromosome Location	chr14:55422317-55422318
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	chr14:55420812..55423243-chr14:55429568..55431730,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12100725	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17128093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61744418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6572996	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7145818	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7161667	1.00[AMR][1000 genomes]
rs8005285	0.81[AFR][1000 genomes]
rs8013950	0.81[AFR][1000 genomes]
rs8019354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022664	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3378942	chr14:55412251-55440744	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
5	chr14:55403000-55449000	Weak transcription	Gastric	stomach
6	chr14:55403200-55442600	Weak transcription	NHEK	skin
7	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
8	chr14:55403600-55423800	Weak transcription	K562	blood
9	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
10	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:55408400-55423600	Weak transcription	GM12878-XiMat	blood
15	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
16	chr14:55409800-55423200	Weak transcription	Primary B cells from cord blood	blood
17	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
19	chr14:55412200-55427600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:55412600-55433600	Weak transcription	HepG2	liver
22	chr14:55413600-55429400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:55414000-55433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:55414400-55423200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:55414400-55429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:55415200-55450000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:55415400-55427600	Weak transcription	Fetal Intestine Large	intestine
28	chr14:55415400-55443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:55415600-55423200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:55415600-55423200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:55415600-55423400	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:55415600-55424800	Weak transcription	Thymus	Thymus
33	chr14:55415600-55425200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:55415600-55427600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:55415600-55427800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:55415600-55428800	Weak transcription	Hela-S3	cervix
37	chr14:55415800-55423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:55415800-55427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:55415800-55427600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:55415800-55427600	Weak transcription	A549	lung
41	chr14:55416000-55422600	Weak transcription	Fetal Stomach	stomach
42	chr14:55416000-55423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:55416000-55423200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:55416000-55427400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:55416000-55442600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr14:55416200-55422600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:55416200-55423200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:55416200-55425400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:55417400-55428800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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