Variant report

Variant	rs721470
Chromosome Location	chr2:133426771-133426772
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	chr2:133425043..133426903-chr2:133429908..133431486,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10179167	0.83[ASN][1000 genomes]
rs10179785	0.84[ASN][1000 genomes]
rs10189715	0.89[ASN][1000 genomes]
rs1131671	0.87[ASN][1000 genomes]
rs13028563	0.86[ASN][1000 genomes]
rs1430630	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430631	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1430632	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17396523	0.85[ASN][1000 genomes]
rs17396537	0.87[ASN][1000 genomes]
rs17396607	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1897166	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033332	0.81[EUR][1000 genomes]
rs2082177	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082179	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2082181	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2163342	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244888	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2248193	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288653	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2315599	0.87[ASN][1000 genomes]
rs2320153	0.82[ASN][1000 genomes]
rs2435612	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2566525	0.80[EUR][1000 genomes]
rs2566528	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2566529	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2566530	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2566531	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2566535	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2566536	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2566537	0.97[ASN][1000 genomes]
rs2566538	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2709520	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2709521	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2709523	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2709524	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2709525	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2709526	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2709527	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2709528	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2709532	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2709533	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2709534	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2709536	0.81[EUR][1000 genomes]
rs2709541	0.80[EUR][1000 genomes]
rs2709542	0.80[EUR][1000 genomes]
rs2709545	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2709546	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2709548	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2709549	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738842	0.87[ASN][1000 genomes]
rs4340582	0.86[ASN][1000 genomes]
rs4547578	0.83[ASN][1000 genomes]
rs4954351	0.86[ASN][1000 genomes]
rs4954352	0.87[ASN][1000 genomes]
rs713535	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs744821	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7558213	0.88[ASN][1000 genomes]
rs7558730	0.84[ASN][1000 genomes]
rs7567602	0.84[ASN][1000 genomes]
rs7603894	0.84[ASN][1000 genomes]
rs7603926	0.81[ASN][1000 genomes]
rs7608591	0.84[ASN][1000 genomes]
rs9973717	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133424600-133427000	Flanking Active TSS	HUVEC	blood vessel
2	chr2:133425400-133429200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:133425600-133427200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:133425600-133427600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:133425800-133426800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr2:133425800-133426800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:133425800-133426800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:133425800-133427600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:133425800-133429000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr2:133425800-133429200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:133425800-133429200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:133425800-133429200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:133425800-133429200	Active TSS	Fetal Kidney	kidney
14	chr2:133426000-133426800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:133426000-133426800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:133426000-133426800	Bivalent Enhancer	Liver	Liver
17	chr2:133426000-133426800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr2:133426000-133426800	Bivalent Enhancer	HMEC	breast
19	chr2:133426000-133427000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:133426000-133427000	Active TSS	NH-A	brain
21	chr2:133426000-133427200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr2:133426000-133427600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
23	chr2:133426000-133427600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr2:133426000-133427600	Bivalent Enhancer	Placenta	Placenta
25	chr2:133426000-133427600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr2:133426000-133428200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:133426000-133428200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:133426000-133428800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:133426000-133428800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr2:133426000-133429000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:133426000-133429000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:133426000-133429000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr2:133426000-133429200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:133426200-133426800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:133426200-133426800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr2:133426200-133426800	Bivalent Enhancer	Fetal Brain Male	brain
39	chr2:133426200-133426800	Enhancers	Gastric	stomach
40	chr2:133426200-133426800	Bivalent Enhancer	Lung	lung
41	chr2:133426200-133427000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:133426200-133427000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:133426200-133427000	Bivalent Enhancer	Esophagus	oesophagus
44	chr2:133426200-133427600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
45	chr2:133426200-133428000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr2:133426200-133428800	Active TSS	Brain Anterior Caudate	brain
47	chr2:133426400-133426800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr2:133426400-133426800	Bivalent/Poised TSS	Right Ventricle	heart
49	chr2:133426400-133426800	Bivalent/Poised TSS	A549	lung
50	chr2:133426400-133427000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

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