Variant report

Variant	rs73221824
Chromosome Location	chr4:28230926-28230927
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	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13118791	1.00[ASN][1000 genomes]
rs73219802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221808	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221829	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221830	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1002855	chr4:28141588-28240495	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878774	chr4:28153349-28254938	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1005382	chr4:28157180-28403800	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv878775	chr4:28163856-28473048	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1000514	chr4:28192982-28445194	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878776	chr4:28208093-28267024	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv878777	chr4:28208093-28343903	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28229000-28231400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:28229000-28234800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:28229400-28231800	Enhancers	HMEC	breast
4	chr4:28229600-28231200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:28230000-28231800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:28230200-28231200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:28230200-28231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:28230400-28231000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:28230400-28231000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:28230400-28231200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:28230400-28231200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:28230400-28231200	Enhancers	Fetal Lung	lung
13	chr4:28230400-28231200	Enhancers	NHLF	lung
14	chr4:28230400-28231400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:28230400-28231600	Enhancers	NHEK	skin
16	chr4:28230400-28232000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:28230600-28231000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:28230600-28231000	Enhancers	HSMMtube	muscle
19	chr4:28230600-28231200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:28230600-28231200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:28230600-28231200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:28230600-28231200	Enhancers	Fetal Stomach	stomach
23	chr4:28230600-28231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:28230600-28231400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:28230600-28231600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:28230800-28231000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:28230800-28231000	Enhancers	HSMM	muscle
28	chr4:28230800-28231200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:28230800-28231200	Enhancers	A549	lung
30	chr4:28230800-28231200	Enhancers	Hela-S3	cervix
31	chr4:28230800-28231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:28230800-28231400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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