Variant report

Variant	rs1125247
Chromosome Location	chr4:18691553-18691554
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	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10002345	1.00[ASN][1000 genomes]
rs10516328	1.00[ASN][1000 genomes]
rs12509919	1.00[ASN][1000 genomes]
rs16897218	1.00[ASN][1000 genomes]
rs16897428	1.00[ASN][1000 genomes]
rs16897436	1.00[ASN][1000 genomes]
rs16897476	1.00[ASN][1000 genomes]
rs1874288	1.00[ASN][1000 genomes]
rs2320980	1.00[ASN][1000 genomes]
rs28393986	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874415	1.00[ASN][1000 genomes]
rs3924699	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256223	1.00[ASN][1000 genomes]
rs4296675	1.00[ASN][1000 genomes]
rs4346646	1.00[ASN][1000 genomes]
rs4698236	1.00[ASN][1000 genomes]
rs4698705	1.00[ASN][1000 genomes]
rs55738315	1.00[ASN][1000 genomes]
rs56130703	1.00[ASN][1000 genomes]
rs61040514	1.00[ASN][1000 genomes]
rs61486204	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449401	1.00[ASN][1000 genomes]
rs6836177	1.00[ASN][1000 genomes]
rs73104312	1.00[ASN][1000 genomes]
rs73250457	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250463	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250464	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801035	1.00[ASN][1000 genomes]
rs73801036	1.00[ASN][1000 genomes]
rs73801037	1.00[ASN][1000 genomes]
rs73801038	1.00[ASN][1000 genomes]
rs73801048	1.00[ASN][1000 genomes]
rs73801050	1.00[ASN][1000 genomes]
rs7671285	1.00[ASN][1000 genomes]
rs7696154	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003931	chr4:18241575-18849898	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv878722	chr4:18668957-18741988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18688000-18697600	Weak transcription	Gastric	stomach
2	chr4:18690800-18693600	Enhancers	Fetal Kidney	kidney
3	chr4:18691200-18691600	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:18691200-18691800	Enhancers	Fetal Heart	heart
5	chr4:18691200-18692000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:18691200-18692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:18691200-18692200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:18691200-18692200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:18691200-18692200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:18691200-18693000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:18691200-18693000	Enhancers	Colon Smooth Muscle	Colon
12	chr4:18691200-18693600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:18691200-18693800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:18691200-18693800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:18691200-18694000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:18691200-18694000	Enhancers	Fetal Lung	lung
17	chr4:18691400-18691600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:18691400-18691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:18691400-18691800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:18691400-18691800	Enhancers	Fetal Stomach	stomach
21	chr4:18691400-18692200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:18691400-18692400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:18691400-18692400	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:18691400-18692600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:18691400-18692800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:18691400-18693200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:18691400-18694200	Enhancers	H1 Cell Line	embryonic stem cell

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