Variant report

Variant	rs28749277
Chromosome Location	chr4:121177432-121177433
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	chr4:121167566..121169623-chr4:121176920..121179543,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10005042	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010642	0.84[EUR][1000 genomes]
rs10029180	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518355	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941471	1.00[ASN][1000 genomes]
rs13434556	0.83[EUR][1000 genomes]
rs1396533	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1526324	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554730	0.85[EUR][1000 genomes]
rs17315319	0.93[EUR][1000 genomes]
rs28446046	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472543	0.87[EUR][1000 genomes]
rs28503893	0.83[EUR][1000 genomes]
rs28624642	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634547	0.83[EUR][1000 genomes]
rs28729575	0.87[EUR][1000 genomes]
rs6534179	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856851	0.83[EUR][1000 genomes]
rs6856905	0.83[EUR][1000 genomes]
rs72914386	1.00[ASN][1000 genomes]
rs73845504	0.83[ASN][1000 genomes]
rs9684604	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9991289	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv1845528	chr4:121034480-121185834	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1002606	chr4:121145456-121194713	Active TSS Enhancers Flanking Active TSS Weak 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	chr4:121177200-121178000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:121177200-121178000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr4:121177200-121178000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:121177200-121178200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:121177200-121178800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:121177400-121177800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:121177400-121178000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:121177400-121178000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:121177400-121178000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:121177400-121178200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr4:121177400-121178200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:121177400-121178200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:121177400-121178200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:121177400-121178200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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