Variant report

Variant	rs11972517
Chromosome Location	chr7:83323891-83323892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11980792	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1391068	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1603569	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16887568	1.00[EUR][1000 genomes]
rs551790	1.00[EUR][1000 genomes]
rs62475109	0.83[AMR][1000 genomes]
rs663143	1.00[EUR][1000 genomes]
rs6973456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017248	chr7:83189888-83385765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2753501	chr7:83250118-83336854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017237	chr7:83262951-83423389	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758122	chr7:83300506-83460112	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759541	chr7:83300506-83460112	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv888609	chr7:83307600-83403157	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888610	chr7:83307600-83411926	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888611	chr7:83318875-83415942	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83319200-83325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:83319600-83331600	Weak transcription	Fetal Lung	lung
3	chr7:83321200-83324200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83321200-83324600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:83323000-83324000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:83323000-83324400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:83323000-83325400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:83323200-83324400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr7:83323400-83324400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr7:83323400-83326600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr7:83323600-83324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:83323600-83324600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr7:83323600-83326000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr7:83323800-83325400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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