Variant report

Variant	rs73133809
Chromosome Location	chr7:66055536-66055537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:
2	chr7:66055516..66058509-chr7:66093670..66096346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10081172	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10224536	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10225392	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10226294	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10228381	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10229580	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10231860	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10235037	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10236665	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10237244	0.87[EUR][1000 genomes]
rs10239200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240153	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240582	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10241395	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10243608	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10244459	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10244602	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10247324	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10247852	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10252133	0.87[EUR][1000 genomes]
rs10255813	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10256117	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10262184	0.82[EUR][1000 genomes]
rs10264619	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10265154	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10266041	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10267834	0.82[EUR][1000 genomes]
rs10270326	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10271177	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10273320	0.83[EUR][1000 genomes]
rs10273402	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10275413	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10277231	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278343	0.83[EUR][1000 genomes]
rs10278763	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10280431	0.86[EUR][1000 genomes]
rs10280717	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281544	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10281734	0.87[EUR][1000 genomes]
rs10479728	0.83[EUR][1000 genomes]
rs12234826	0.83[EUR][1000 genomes]
rs12333749	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13437901	0.87[EUR][1000 genomes]
rs16868546	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17138208	0.87[EUR][1000 genomes]
rs17138274	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1862086	0.83[EUR][1000 genomes]
rs1882656	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1882657	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895134	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420598	0.85[EUR][1000 genomes]
rs28368585	0.83[EUR][1000 genomes]
rs28375318	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28379824	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28455065	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28474923	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28526115	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28547918	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28606020	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28607736	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28615327	0.85[EUR][1000 genomes]
rs28634091	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28657758	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28663128	0.84[EUR][1000 genomes]
rs3757419	0.85[EUR][1000 genomes]
rs3764904	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778908	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800814	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3814464	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3962133	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4518552	0.81[EUR][1000 genomes]
rs4587218	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57902746	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58123804	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58973756	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59079543	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60344524	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61093354	0.84[EUR][1000 genomes]
rs61700307	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6949083	0.85[EUR][1000 genomes]
rs6964080	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6973897	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6974601	0.83[EUR][1000 genomes]
rs73133816	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73133851	0.81[EUR][1000 genomes]
rs73133859	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133865	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135905	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135907	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135909	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135917	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135922	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135925	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135950	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135960	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135973	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137960	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137963	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137978	0.83[ASN][1000 genomes]
rs73148698	0.81[EUR][1000 genomes]
rs73152719	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73152725	0.81[EUR][1000 genomes]
rs9654843	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS 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	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv970868	chr7:66035219-66056610	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73133809	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73133809	GS1-124K5.12	cis	Artery Tibial	GTEx
rs73133809	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:66037600-66056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:66038000-66056200	Weak transcription	Colonic Mucosa	Colon
6	chr7:66038200-66055800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66040200-66056200	Weak transcription	Aorta	Aorta
8	chr7:66042000-66055800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:66045200-66055800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:66049000-66055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:66049000-66055800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:66049000-66056200	Weak transcription	Left Ventricle	heart
13	chr7:66049200-66055600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:66049200-66055600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:66049200-66055800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:66049400-66055800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:66050400-66056200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:66051800-66055800	Weak transcription	Brain Substantia Nigra	brain
19	chr7:66052200-66056000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:66052400-66055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66052400-66056200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:66052800-66055600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:66052800-66055800	Weak transcription	Primary B cells from cord blood	blood
24	chr7:66052800-66056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:66053200-66055800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:66054200-66055600	Enhancers	Right Ventricle	heart
27	chr7:66054200-66055800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:66054200-66056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:66054200-66056200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:66054200-66056200	Enhancers	Pancreas	Pancrea
31	chr7:66054400-66055600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:66054400-66055600	Enhancers	K562	blood
33	chr7:66054400-66056200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr7:66054600-66055600	Enhancers	Fetal Brain Female	brain
35	chr7:66054600-66055800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:66054600-66056200	Enhancers	Primary T cells from cord blood	blood
37	chr7:66054600-66056200	Enhancers	Liver	Liver
38	chr7:66054600-66056200	Enhancers	Brain Anterior Caudate	brain
39	chr7:66054600-66056200	Enhancers	Placenta	Placenta
40	chr7:66054600-66056200	Enhancers	Fetal Thymus	thymus
41	chr7:66054600-66056200	Enhancers	Lung	lung
42	chr7:66054600-66056200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:66054600-66056400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:66054800-66055600	Enhancers	Esophagus	oesophagus
45	chr7:66054800-66055600	Genic enhancers	Fetal Stomach	stomach
46	chr7:66054800-66055600	Enhancers	Ovary	ovary
47	chr7:66054800-66055800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:66054800-66056000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:66054800-66056200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:66055000-66055600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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