Variant report

Variant	rs17522014
Chromosome Location	chr7:70720781-70720782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10244338	0.89[ASN][1000 genomes]
rs12666964	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12669498	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12673515	0.81[AMR][1000 genomes]
rs17593949	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17594016	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55654006	0.88[ASN][1000 genomes]
rs62457809	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62457810	0.92[ASN][1000 genomes]
rs62457812	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62457814	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62457815	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62457817	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718982	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70710400-70731800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70717800-70722000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:70718600-70721800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:70718800-70721000	Enhancers	Fetal Brain Male	brain
5	chr7:70718800-70721600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:70719000-70721000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:70719600-70720800	Enhancers	Fetal Muscle Leg	muscle
8	chr7:70719600-70721000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr7:70719800-70721000	Enhancers	Left Ventricle	heart
10	chr7:70719800-70721200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr7:70720200-70720800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:70720200-70721000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:70720400-70721000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:70720600-70720800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:70720600-70720800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr7:70720600-70721400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:70720600-70725000	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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