Variant report

Variant	rs1731300
Chromosome Location	chr7:53025416-53025417
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1174854	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13438426	0.82[EUR][1000 genomes]
rs13438430	0.82[EUR][1000 genomes]
rs1389273	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1689294	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1689295	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1689300	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1689301	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1689310	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1689311	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1731301	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1731313	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1731314	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1731315	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1731321	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2452792	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2464093	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28360963	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888027	chr7:52588348-53190508	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1017676	chr7:52932139-53350524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831001	chr7:53003534-53152783	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv607008	chr7:53009355-53068819	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv464449	chr7:53009493-53026365	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv607009	chr7:53009493-53026365	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53017200-53026200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:53017200-53026800	Weak transcription	Fetal Heart	heart
3	chr7:53023000-53031000	Enhancers	Placenta	Placenta
4	chr7:53023600-53026800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:53023600-53027200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:53023600-53040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:53023800-53025800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:53024000-53025800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:53024200-53026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:53024600-53025600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:53024600-53026400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:53024600-53027600	Enhancers	Ovary	ovary
13	chr7:53024800-53025800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:53024800-53026400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:53025000-53025600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:53025000-53026200	Weak transcription	Fetal Intestine Large	intestine
17	chr7:53025000-53026600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:53025000-53026800	Weak transcription	HUVEC	blood vessel
19	chr7:53025200-53025600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:53025400-53026200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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