Variant report

Variant	rs60787216
Chromosome Location	chr3:140793671-140793672
allele	C/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	TEAD4	chr3:140793284-140793709	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr3:140793414-140793684	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr3:140793275-140793832	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:140793221-140793684	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr3:140793275-140793676	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr3:140793300-140793749	H1-hESC	embryonic stem cell:	n/a	chr3:140793496-140793509
7	CTBP2	chr3:140793322-140794135	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr3:140793316-140793676	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140782511..140785350-chr3:140792921..140794807,2	K562	blood:
2	chr3:140785941..140788584-chr3:140792512..140794344,2	MCF-7	breast:

Variant related genes	Relation type
SPSB4	TF binding region

rs_ID	r²[population]
rs1426965	1.00[EUR][1000 genomes]
rs1426966	1.00[EUR][1000 genomes]
rs16851040	1.00[EUR][1000 genomes]
rs16851042	1.00[EUR][1000 genomes]
rs16851043	1.00[EUR][1000 genomes]
rs16851045	1.00[EUR][1000 genomes]
rs16851047	1.00[EUR][1000 genomes]
rs57086788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57164953	1.00[EUR][1000 genomes]
rs6439978	1.00[EUR][1000 genomes]
rs6774862	1.00[EUR][1000 genomes]
rs6775066	1.00[EUR][1000 genomes]
rs6777560	1.00[EUR][1000 genomes]
rs72980158	1.00[EUR][1000 genomes]
rs72980166	1.00[EUR][1000 genomes]
rs72980168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72980172	1.00[EUR][1000 genomes]
rs7623980	1.00[EUR][1000 genomes]
rs7624238	1.00[EUR][1000 genomes]
rs7624581	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140777400-140795000	Weak transcription	Fetal Brain Female	brain
2	chr3:140783600-140794200	Weak transcription	Fetal Kidney	kidney
3	chr3:140785800-140795000	Enhancers	Fetal Heart	heart
4	chr3:140785800-140795000	Weak transcription	Lung	lung
5	chr3:140786200-140794000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:140788200-140797200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:140788600-140795000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:140789000-140797600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:140789400-140795800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:140789600-140798000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:140790200-140795400	Weak transcription	Fetal Intestine Small	intestine
12	chr3:140790600-140795000	Weak transcription	Fetal Brain Male	brain
13	chr3:140790600-140795200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:140790600-140802800	Weak transcription	Dnd41	blood
15	chr3:140790800-140795400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:140790800-140795400	Weak transcription	Right Atrium	heart
17	chr3:140791000-140794600	Weak transcription	Fetal Stomach	stomach
18	chr3:140791000-140795000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:140791200-140793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:140791200-140796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:140791400-140795000	Weak transcription	Right Ventricle	heart
22	chr3:140791800-140793800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:140791800-140795000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:140791800-140795000	Enhancers	Brain Germinal Matrix	brain
25	chr3:140791800-140795000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:140791800-140797400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:140792000-140797400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:140792200-140797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:140792400-140794400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:140792400-140795600	Enhancers	Fetal Muscle Leg	muscle
31	chr3:140792400-140796000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:140792400-140797400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:140792400-140797800	Enhancers	Pancreas	Pancrea
34	chr3:140792600-140794600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:140792600-140797800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:140792800-140795000	Weak transcription	Brain Angular Gyrus	brain
37	chr3:140792800-140808400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:140793200-140795000	Weak transcription	Fetal Lung	lung
39	chr3:140793400-140793800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr3:140793400-140806600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:140793600-140793800	Enhancers	Left Ventricle	heart
42	chr3:140793600-140794000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:140793600-140794000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:140793600-140794000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:140793600-140795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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