Variant report

Variant	rs1689317
Chromosome Location	chr7:53024316-53024317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13226881	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34484358	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][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:21 , 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	chr7:53022600-53025200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:53023000-53025000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:53023000-53031000	Enhancers	Placenta	Placenta
6	chr7:53023200-53024800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:53023200-53024800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:53023400-53024600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:53023400-53025000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:53023400-53025400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:53023600-53024600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:53023600-53026800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:53023600-53027200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:53023600-53040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:53023800-53025800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:53024000-53024400	Enhancers	Fetal Intestine Large	intestine
17	chr7:53024000-53024600	Active TSS	Ovary	ovary
18	chr7:53024000-53024600	Flanking Active TSS	HUVEC	blood vessel
19	chr7:53024000-53024800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:53024000-53025800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:53024200-53026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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