Variant report

Variant	rs12668014
Chromosome Location	chr7:21080439-21080440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12669440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12670998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16872640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872659	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17143718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17143826	1.00[EUR][1000 genomes]
rs17143829	1.00[EUR][1000 genomes]
rs17143840	1.00[EUR][1000 genomes]
rs17143848	1.00[EUR][1000 genomes]
rs2215674	0.90[ASN][1000 genomes]
rs56735308	1.00[EUR][1000 genomes]
rs59994620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61642822	1.00[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	nsv1030726	chr7:20506095-21086719	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830920	chr7:21014535-21201580	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:21068200-21082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21079200-21082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:21079200-21083000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:21079200-21084800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:21079400-21081200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:21079400-21082200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:21079400-21083200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:21079800-21081200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:21079800-21085400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:21079800-21085400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:21080000-21081200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:21080200-21081200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:21080400-21080800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:21080400-21082000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

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