Variant report

Variant	rs57550673
Chromosome Location	chr14:39556592-39556593
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr14:39556163-39556739	IMR90	lung:	n/a	n/a
2	POLR2A	chr14:39556122-39557388	HepG2	liver:	n/a	n/a
3	MAFK	chr14:39556564-39556601	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000259121	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1028591	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1040836	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12882909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883114	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883946	0.83[ASN][1000 genomes]
rs12887605	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12891260	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12891438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895569	0.81[ASN][1000 genomes]
rs12896384	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12896963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12897263	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12897593	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17607605	0.83[ASN][1000 genomes]
rs17616347	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17617123	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17617289	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17670531	0.83[ASN][1000 genomes]
rs17676972	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17679493	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1884383	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1884386	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1950508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1960796	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2038359	0.81[EUR][1000 genomes]
rs2038360	0.81[EUR][1000 genomes]
rs2144526	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2144527	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2273315	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415533	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28364834	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34292075	0.83[ASN][1000 genomes]
rs34328534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34870044	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34896803	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34984050	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35006421	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35270180	0.81[EUR][1000 genomes]
rs35395604	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35412542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35502984	0.81[EUR][1000 genomes]
rs35534904	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35729735	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35767652	0.81[EUR][1000 genomes]
rs35873738	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35976812	0.80[EUR][1000 genomes]
rs4555056	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55902358	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55993688	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59881143	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61338087	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6571887	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67190795	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67968129	0.81[EUR][1000 genomes]
rs7140282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71407778	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143056	0.83[ASN][1000 genomes]
rs7143370	0.82[ASN][1000 genomes]
rs7144730	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145712	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151407	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152392	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154223	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7157774	0.81[EUR][1000 genomes]
rs743222	0.80[EUR][1000 genomes]
rs8007028	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8007240	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011244	0.81[EUR][1000 genomes]
rs8011494	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8017648	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8020013	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8020321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9743466	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9743749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526000-39557200	Strong transcription	Osteobl	bone
3	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
7	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
13	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
14	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
19	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:39538800-39556600	Strong transcription	Adipose Nuclei	Adipose
21	chr14:39538800-39561000	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:39540400-39559800	Strong transcription	HepG2	liver
25	chr14:39540800-39559600	Strong transcription	Liver	Liver
26	chr14:39543200-39556600	Strong transcription	HSMM	muscle
27	chr14:39545400-39562800	Strong transcription	GM12878-XiMat	blood
28	chr14:39546600-39557600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:39546600-39565400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:39546800-39556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:39546800-39556800	Strong transcription	Primary T cells from cord blood	blood
32	chr14:39546800-39557000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:39547200-39557600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:39549000-39560000	Strong transcription	Fetal Intestine Large	intestine
35	chr14:39549200-39556800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:39549200-39565400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:39549200-39565600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:39549200-39565600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:39549400-39562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:39549400-39565400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:39549400-39565400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr14:39550200-39556800	Strong transcription	NH-A	brain
43	chr14:39550600-39565400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:39550800-39565400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:39551000-39556600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:39551000-39565000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:39551200-39556800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:39551600-39557600	Strong transcription	NHDF-Ad	bronchial
49	chr14:39551800-39557000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:39551800-39557600	Strong transcription	Colon Smooth Muscle	Colon

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