Variant report

Variant	rs73093048
Chromosome Location	chr7:47764109-47764110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47758562..47761407-chr7:47764047..47766786,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12374833	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542322	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881580	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17172895	0.83[ASN][1000 genomes]
rs17172896	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17172897	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17172898	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17544941	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17627420	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55683481	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55745922	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56017135	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56024530	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57720210	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59963947	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60404365	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73093024	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093028	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093030	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093036	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093039	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093041	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093043	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093044	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093062	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093065	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093067	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094741	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094761	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73094779	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73094780	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73094782	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73094784	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102790	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102792	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102794	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102797	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102799	0.85[EUR][1000 genomes]
rs73104703	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73104705	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73104711	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73104712	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73104714	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73104717	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73104718	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789757	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7790043	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7795201	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805780	0.83[ASN][1000 genomes]
rs7808100	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47759600-47767000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:47760800-47764800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:47761000-47765000	Weak transcription	GM12878-XiMat	blood
4	chr7:47761400-47764200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:47762600-47765200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:47763000-47766200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:47763400-47766000	Enhancers	Primary B cells from cord blood	blood
8	chr7:47763600-47765000	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:47763600-47765400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:47763600-47765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:47763800-47764200	Genic enhancers	Fetal Intestine Small	intestine
12	chr7:47763800-47764600	Enhancers	NH-A	brain
13	chr7:47763800-47764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:47763800-47765000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:47763800-47765000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:47763800-47765000	Enhancers	Fetal Muscle Leg	muscle
17	chr7:47763800-47765000	Enhancers	Placenta	Placenta
18	chr7:47763800-47765000	Enhancers	HSMMtube	muscle
19	chr7:47763800-47765200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:47763800-47765200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:47763800-47765200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:47763800-47765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:47763800-47765200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:47763800-47765200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:47763800-47765200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:47763800-47765200	Enhancers	NHLF	lung
27	chr7:47763800-47765400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:47763800-47765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:47763800-47765400	Enhancers	Hela-S3	cervix
30	chr7:47763800-47765600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:47763800-47765800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:47763800-47765800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:47763800-47766000	Enhancers	Spleen	Spleen
34	chr7:47763800-47766600	Enhancers	HepG2	liver
35	chr7:47763800-47767000	Enhancers	Fetal Kidney	kidney
36	chr7:47764000-47764200	Enhancers	Pancreas	Pancrea
37	chr7:47764000-47764400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:47764000-47764600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:47764000-47764600	Enhancers	Fetal Lung	lung
40	chr7:47764000-47764800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:47764000-47765000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:47764000-47765000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:47764000-47765000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:47764000-47765000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:47764000-47765200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:47764000-47765200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:47764000-47765200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:47764000-47765200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:47764000-47765200	Enhancers	HMEC	breast
50	chr7:47764000-47765200	Enhancers	HSMM	muscle

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