Variant report

Variant	rs183151
Chromosome Location	chr3:138092950-138092951
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	chr3:138089900..138093622-chr3:138093776..138096723,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1199328	0.88[EUR][1000 genomes]
rs1199333	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1199334	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1199335	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1199336	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1199346	0.90[ASN][1000 genomes]
rs1199347	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1201763	0.90[ASN][1000 genomes]
rs1212469	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13082471	0.90[EUR][1000 genomes]
rs1308362	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1624314	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166195	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166196	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1679149	0.94[EUR][1000 genomes]
rs1720825	0.90[EUR][1000 genomes]
rs194146	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs253662	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40005	0.90[ASN][1000 genomes]
rs40412	0.90[ASN][1000 genomes]
rs42761	0.90[ASN][1000 genomes]
rs4346503	0.90[EUR][1000 genomes]
rs4437085	0.85[ASN][1000 genomes]
rs4678416	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6809480	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs774373	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs799328	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs811332	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138068800-138093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:138070000-138096600	Weak transcription	Fetal Brain Male	brain
3	chr3:138071200-138096600	Weak transcription	Aorta	Aorta
4	chr3:138074200-138095600	Enhancers	Fetal Heart	heart
5	chr3:138076000-138108200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:138078600-138100600	Weak transcription	NH-A	brain
7	chr3:138079600-138095600	Weak transcription	Fetal Brain Female	brain
8	chr3:138080200-138096400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:138081600-138108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:138083000-138100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:138083200-138100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:138085200-138100000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:138085800-138096200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:138086200-138100400	Weak transcription	HepG2	liver
15	chr3:138086800-138100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:138087000-138096000	Weak transcription	Placenta	Placenta
17	chr3:138087200-138093400	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:138087200-138093400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:138087200-138097000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:138087200-138100000	Weak transcription	Pancreas	Pancrea
21	chr3:138087200-138100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:138087400-138097000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:138087600-138095000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:138088400-138093800	Weak transcription	Psoas Muscle	Psoas
25	chr3:138089200-138096200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:138089200-138100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:138089200-138100800	Weak transcription	Fetal Lung	lung
28	chr3:138089400-138100000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:138089400-138100000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:138089400-138102400	Weak transcription	Spleen	Spleen
31	chr3:138089600-138097600	Weak transcription	Brain Substantia Nigra	brain
32	chr3:138089600-138100200	Weak transcription	Lung	lung
33	chr3:138090000-138095200	Weak transcription	Brain Germinal Matrix	brain
34	chr3:138090200-138093400	Strong transcription	HSMMtube	muscle
35	chr3:138090400-138119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:138091000-138093400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:138091000-138094600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:138091000-138098000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:138091200-138096400	Weak transcription	Brain Anterior Caudate	brain
40	chr3:138091200-138100400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:138091400-138093400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:138091400-138093600	Weak transcription	Ovary	ovary
43	chr3:138091400-138096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:138091400-138100800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:138091600-138094000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:138091600-138096000	Weak transcription	Right Ventricle	heart
47	chr3:138091600-138098600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:138091800-138093400	Strong transcription	Osteobl	bone
49	chr3:138091800-138094000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:138091800-138094200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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