Variant report

Variant	rs73472312
Chromosome Location	chr7:128925217-128925218
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	chr7:128919939..128923849-chr7:128924790..128927606,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10248810	0.93[ASN][1000 genomes]
rs10954226	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763056	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11763325	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769045	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11979476	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12111832	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12112374	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216567	0.93[ASN][1000 genomes]
rs13226649	0.94[ASN][1000 genomes]
rs13235668	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13235749	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1473236	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1526900	0.82[ASN][1000 genomes]
rs1559486	0.81[EUR][1000 genomes]
rs17168512	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880854	1.00[ASN][1000 genomes]
rs2012919	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2056694	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103232	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2141075	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2303303	0.80[EUR][1000 genomes]
rs2402944	0.98[ASN][1000 genomes]
rs2402945	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2566885	0.98[ASN][1000 genomes]
rs2566886	0.98[ASN][1000 genomes]
rs2694572	0.98[ASN][1000 genomes]
rs2718084	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2718086	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718089	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2718093	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718096	0.98[ASN][1000 genomes]
rs4440569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731569	0.84[ASN][1000 genomes]
rs55638303	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56026912	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59659852	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60275163	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467233	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6467235	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467237	0.98[ASN][1000 genomes]
rs6467240	0.94[ASN][1000 genomes]
rs6467241	0.95[ASN][1000 genomes]
rs6467242	0.93[ASN][1000 genomes]
rs6467243	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66538149	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66864889	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66970518	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67520056	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67820265	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67853067	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67997229	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68076553	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68184415	0.94[ASN][1000 genomes]
rs68187585	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6942756	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946288	0.80[ASN][1000 genomes]
rs6946938	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6948252	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949950	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967464	0.98[ASN][1000 genomes]
rs6971917	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6974155	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6980385	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778277	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7780886	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7782348	0.96[ASN][1000 genomes]
rs7788327	0.94[ASN][1000 genomes]
rs7792317	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794622	0.94[ASN][1000 genomes]
rs7800983	0.81[ASN][1000 genomes]
rs7803052	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7806089	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9640854	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9641849	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9649530	0.84[ASN][1000 genomes]
rs9649531	0.84[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	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:128902800-128928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:128903000-128929200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:128903400-128931400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:128903400-128933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:128905800-128932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:128909800-128925600	Weak transcription	Left Ventricle	heart
8	chr7:128911000-128934400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:128911800-128930600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:128912000-128927000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:128912200-128925600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
13	chr7:128913200-128940800	Weak transcription	Aorta	Aorta
14	chr7:128913400-128926000	Weak transcription	Fetal Thymus	thymus
15	chr7:128914000-128934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:128914200-128933400	Weak transcription	Primary B cells from cord blood	blood
17	chr7:128914600-128929000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:128914800-128927200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:128914800-128928200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:128914800-128931200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:128914800-128931400	Weak transcription	Fetal Lung	lung
22	chr7:128914800-128932800	Weak transcription	Fetal Intestine Large	intestine
23	chr7:128914800-128934600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:128914800-128934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:128914800-128935000	Weak transcription	Fetal Brain Female	brain
26	chr7:128915000-128962600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:128915200-128930400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:128915200-128934800	Weak transcription	Fetal Intestine Small	intestine
29	chr7:128919000-128930400	Weak transcription	Liver	Liver
30	chr7:128920000-128934400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:128920000-128951600	Weak transcription	Primary T cells from cord blood	blood
32	chr7:128920400-128934200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:128920400-128934800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:128921600-128925400	Enhancers	HUVEC	blood vessel
35	chr7:128921800-128927400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:128922000-128925800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:128923200-128930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:128923200-128934400	Weak transcription	NHEK	skin
39	chr7:128923800-128925800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:128924400-128925400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:128924600-128925600	Enhancers	Brain Hippocampus Middle	brain
42	chr7:128924600-128925800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:128924800-128925400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:128924800-128925400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:128924800-128925400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:128924800-128925600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:128924800-128925600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:128924800-128925800	Enhancers	Fetal Stomach	stomach
49	chr7:128925000-128925400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:128925000-128925400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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