Variant report

Variant	rs1395976
Chromosome Location	chr4:130965172-130965173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130964047..130965735-chr4:130986640..130988918,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10518560	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28428490	0.88[EUR][1000 genomes]
rs28581332	0.88[EUR][1000 genomes]
rs28605421	0.93[ASN][1000 genomes]
rs4864324	0.88[EUR][1000 genomes]
rs55907609	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66516628	0.88[EUR][1000 genomes]
rs66528219	0.88[EUR][1000 genomes]
rs66920142	0.88[EUR][1000 genomes]
rs67137307	0.88[EUR][1000 genomes]
rs67499622	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67696760	0.88[EUR][1000 genomes]
rs67868780	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67992570	0.88[EUR][1000 genomes]
rs68036106	0.88[EUR][1000 genomes]
rs6827509	0.93[ASN][1000 genomes]
rs72678114	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678118	0.88[EUR][1000 genomes]
rs72678137	0.88[EUR][1000 genomes]
rs72678144	0.88[EUR][1000 genomes]
rs72930950	0.93[ASN][1000 genomes]
rs7670930	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019516	chr4:130754819-130976202	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017270	chr4:130853337-130982586	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv879936	chr4:130941492-130981535	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv595412	chr4:130962263-131001046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv461640	chr4:130962263-131003605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv595413	chr4:130962263-131003605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1027281	chr4:130962945-131005768	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1027051	chr4:130962945-131010834	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1019114	chr4:130962945-131013140	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130954800-130966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:130954800-130966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:130954800-130966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:130959800-130966600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:130961000-130966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:130964200-130966600	Enhancers	Liver	Liver
7	chr4:130964600-130966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:130964800-130965200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:130965000-130965400	Enhancers	Dnd41	blood
10	chr4:130965000-130965800	Enhancers	HepG2	liver
11	chr4:130965000-130966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:130965000-130967200	Enhancers	HUES48 Cell Line	embryonic stem cell

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