Variant report

Variant	rs28470599
Chromosome Location	chr7:80784805-80784806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80783452..80785528-chr7:80926720..80928385,2	MCF-7	breast:
2	chr7:80781349..80783121-chr7:80784123..80785683,2	K562	blood:
3	chr7:80783252..80785229-chr7:80787279..80788864,2	MCF-7	breast:
4	chr7:80781139..80783357-chr7:80784311..80786613,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10282195	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767232	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11768393	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768454	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11973996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11975298	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11980049	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11981116	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11982217	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982242	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11983345	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11984187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16886981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887030	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154836	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154873	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2367225	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847122	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3914075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4606001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56299732	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56347546	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57292892	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58500032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60103966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60640315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60859227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73374738	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73384446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73384451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73384485	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73384500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386404	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796420	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812231	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80780600-80787000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:80780600-80791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80780800-80785200	Weak transcription	Brain Anterior Caudate	brain
4	chr7:80781200-80790000	Weak transcription	HSMM	muscle
5	chr7:80782800-80785400	Enhancers	HepG2	liver
6	chr7:80783000-80788400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:80783000-80788600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:80783200-80787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:80783200-80788200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:80783400-80785000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:80783400-80785000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:80783400-80788000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:80783600-80785600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:80783600-80785600	Enhancers	Fetal Intestine Small	intestine
15	chr7:80784000-80785000	Weak transcription	Fetal Kidney	kidney
16	chr7:80784000-80785200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:80784000-80787600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:80784000-80788000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:80784200-80785000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:80784200-80785000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:80784200-80785800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:80784200-80788600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:80784200-80789000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:80784400-80785400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:80784400-80785600	Enhancers	HMEC	breast
26	chr7:80784400-80788800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:80784800-80785000	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:80784800-80785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:80784800-80785200	Enhancers	Fetal Intestine Large	intestine
30	chr7:80784800-80785200	Flanking Active TSS	A549	lung
31	chr7:80784800-80785400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:80784800-80785400	Enhancers	Liver	Liver
33	chr7:80784800-80785800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:80784800-80785800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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