Variant report

Variant	rs1471597
Chromosome Location	chr4:54245749-54245750
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	MXI1	chr4:54243000-54245752	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:54244702-54245751	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54245086..54247077-chr4:54304950..54306474,2	K562	blood:

Variant related genes	Relation type
FIP1L1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10000746	0.87[EUR][1000 genomes]
rs10001201	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10005424	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10007903	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10011259	0.87[EUR][1000 genomes]
rs10011394	0.80[ASN][1000 genomes]
rs10017903	0.87[EUR][1000 genomes]
rs10021541	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028142	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10032903	0.80[ASN][1000 genomes]
rs1021099	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133266	0.81[EUR][1000 genomes]
rs11722866	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11723755	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11725230	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11731499	0.87[EUR][1000 genomes]
rs11734039	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734681	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11947256	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12507739	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12508701	0.80[ASN][1000 genomes]
rs12649718	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12651390	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13150384	0.80[ASN][1000 genomes]
rs1481819	0.87[EUR][1000 genomes]
rs1481824	0.88[EUR][1000 genomes]
rs1531748	0.87[EUR][1000 genomes]
rs1600795	0.83[EUR][1000 genomes]
rs17082782	0.82[EUR][1000 genomes]
rs17082893	0.80[ASN][1000 genomes]
rs17520800	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2090117	0.82[EUR][1000 genomes]
rs2271554	0.87[EUR][1000 genomes]
rs2412447	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412488	0.81[EUR][1000 genomes]
rs28414913	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28459503	0.85[ASN][1000 genomes]
rs28579268	0.85[EUR][1000 genomes]
rs35089837	0.80[ASN][1000 genomes]
rs35499169	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36011216	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3765158	0.81[EUR][1000 genomes]
rs3811782	0.88[EUR][1000 genomes]
rs3811785	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4864759	0.87[EUR][1000 genomes]
rs4864760	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56998298	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554100	0.88[EUR][1000 genomes]
rs6554104	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554105	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554106	0.87[EUR][1000 genomes]
rs6818788	0.80[ASN][1000 genomes]
rs6825364	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6827269	0.81[EUR][1000 genomes]
rs6828559	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6833442	0.92[AFR][1000 genomes]
rs6833766	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6834934	0.88[EUR][1000 genomes]
rs6838260	0.80[ASN][1000 genomes]
rs6848887	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6852884	0.83[EUR][1000 genomes]
rs6857024	0.88[EUR][1000 genomes]
rs6857869	0.85[EUR][1000 genomes]
rs7655975	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7682199	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7686177	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7686876	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688853	0.80[ASN][1000 genomes]
rs7689981	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7690908	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7691578	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7697622	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7698792	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs931181	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931182	0.87[EUR][1000 genomes]
rs9312639	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs980987	0.86[EUR][1000 genomes]
rs9995284	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9996883	0.80[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54243000-54247800	Active TSS	GM12878-XiMat	blood
2	chr4:54243200-54245800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:54243200-54246000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:54243200-54246200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:54243200-54246200	Active TSS	Ovary	ovary
6	chr4:54243200-54246200	Active TSS	Thymus	Thymus
7	chr4:54243200-54246400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:54243400-54245800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:54243400-54245800	Active TSS	NHDF-Ad	bronchial
10	chr4:54243400-54246000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54243400-54246200	Active TSS	Aorta	Aorta
12	chr4:54243600-54245800	Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:54243600-54245800	Active TSS	HMEC	breast
14	chr4:54244400-54245800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:54244600-54245800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr4:54244600-54245800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:54244600-54246000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr4:54244600-54246000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:54244600-54246000	Weak transcription	Small Intestine	intestine
20	chr4:54244600-54250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:54244600-54250200	Weak transcription	Left Ventricle	heart
22	chr4:54244600-54256000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:54244600-54256000	Weak transcription	Esophagus	oesophagus
24	chr4:54244600-54256000	Weak transcription	Gastric	stomach
25	chr4:54244600-54256000	Weak transcription	Lung	lung
26	chr4:54244600-54256200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:54244600-54272800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:54244600-54310600	Weak transcription	Spleen	Spleen
29	chr4:54244600-54319200	Weak transcription	Pancreas	Pancrea
30	chr4:54244800-54245800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:54244800-54245800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:54244800-54246000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:54244800-54246000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:54244800-54246000	Flanking Active TSS	Dnd41	blood
35	chr4:54244800-54246200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:54244800-54246400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:54244800-54250200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:54244800-54256000	Weak transcription	Stomach Mucosa	stomach
39	chr4:54245000-54245800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr4:54245000-54245800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr4:54245000-54245800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:54245000-54245800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:54245000-54245800	Flanking Active TSS	Fetal Brain Female	brain
44	chr4:54245000-54246000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:54245000-54246000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:54245000-54246000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr4:54245000-54246200	Enhancers	Brain Substantia Nigra	brain
48	chr4:54245000-54246400	Enhancers	Fetal Brain Male	brain
49	chr4:54245000-54246800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr4:54245000-54248400	Weak transcription	Placenta	Placenta

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