Variant report

Variant	rs12698829
Chromosome Location	chr7:69455154-69455155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
2	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12669460	0.88[ASN][1000 genomes]
rs12674397	0.83[ASN][1000 genomes]
rs12698818	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698821	0.81[EUR][1000 genomes]
rs12698823	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12698824	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12698827	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12698828	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12698831	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698832	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698833	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12698837	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698845	0.89[ASN][1000 genomes]
rs12698852	0.88[ASN][1000 genomes]
rs12698868	0.89[ASN][1000 genomes]
rs12698874	0.83[ASN][1000 genomes]
rs13221694	0.83[AMR][1000 genomes]
rs13224557	0.82[EUR][1000 genomes]
rs13228686	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13229256	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13230441	0.86[ASN][1000 genomes]
rs13238398	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17141190	0.89[ASN][1000 genomes]
rs34215431	0.92[ASN][1000 genomes]
rs6460540	0.83[ASN][1000 genomes]
rs7782663	0.89[ASN][1000 genomes]
rs7785360	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1028705	chr7:69453983-69524628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69444000-69458000	Weak transcription	Pancreas	Pancrea
2	chr7:69445000-69455400	Weak transcription	Fetal Heart	heart
3	chr7:69447400-69460800	Weak transcription	Psoas Muscle	Psoas
4	chr7:69447800-69456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:69448600-69459600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:69450200-69459800	Weak transcription	Right Ventricle	heart
7	chr7:69450800-69456200	Weak transcription	Left Ventricle	heart
8	chr7:69450800-69457400	Weak transcription	Thymus	Thymus
9	chr7:69451000-69460000	Weak transcription	Right Atrium	heart
10	chr7:69454000-69457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:69454000-69458000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:69454400-69457800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69455000-69459600	Weak transcription	Fetal Stomach	stomach
14	chr7:69455000-69460600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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