Variant report

Variant	rs4719380
Chromosome Location	chr7:13789119-13789120
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:15)

rs_ID	r²[population]
rs11761371	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11979631	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2158800	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2190319	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190321	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2357673	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4141225	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4721261	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4721262	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945267	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6949606	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917225	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs917226	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs917227	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs917228	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830909	chr7:13692329-13868294	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv887695	chr7:13704951-13819968	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034411	chr7:13743365-13826756	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13786800-13790200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:13787400-13789600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:13787400-13789800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:13788200-13789600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:13788400-13789200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:13788400-13789400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:13788400-13789400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:13788400-13789600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:13788400-13789800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:13788600-13789200	Enhancers	Fetal Brain Female	brain
11	chr7:13788600-13789800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:13788800-13789400	Enhancers	Fetal Brain Male	brain
13	chr7:13788800-13789600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:13788800-13789600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:13788800-13790200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:13789000-13789200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:13789000-13789400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:13789000-13790200	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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