Variant report

Variant	rs73135950
Chromosome Location	chr7:66161391-66161392
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	chr7:66149593..66151566-chr7:66161338..66163693,2	K562	blood:
2	chr7:66161177..66163221-chr7:66202677..66204246,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10081172	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10156059	0.84[EUR][1000 genomes]
rs10224189	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10224536	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10225392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10226191	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10226294	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10228381	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10229580	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231860	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234640	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10235037	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10236665	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10237244	0.84[EUR][1000 genomes]
rs10239200	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241395	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10243608	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10244459	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244602	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245017	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10247324	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10247815	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10247852	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10252133	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10255813	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256117	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10257393	0.84[EUR][1000 genomes]
rs10262184	0.89[AFR][1000 genomes]
rs10264619	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10265154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267834	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10270326	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273320	0.88[EUR][1000 genomes]
rs10273402	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10275413	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10277231	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278343	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10278763	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280431	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10280717	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280816	0.81[EUR][1000 genomes]
rs10281544	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10281734	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10282522	0.84[EUR][1000 genomes]
rs10479728	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1060527	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12234826	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12333749	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334214	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13437901	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16868546	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138208	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17138274	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747927	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882656	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882657	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1895134	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2013707	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28368585	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28375318	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28379824	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28455065	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28472679	0.86[EUR][1000 genomes]
rs28474923	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28501161	0.86[EUR][1000 genomes]
rs28526115	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28533332	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28547918	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28606020	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28607736	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28615327	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28634091	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28641990	0.86[EUR][1000 genomes]
rs28657758	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28663128	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28675035	0.86[EUR][1000 genomes]
rs3757419	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3764904	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778908	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800814	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814464	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823607	0.84[EUR][1000 genomes]
rs3962133	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587218	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57774708	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57875851	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57902746	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58123804	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58973756	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59079543	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60026498	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60344524	0.83[ASN][1000 genomes]
rs61093354	0.80[EUR][1000 genomes]
rs61700307	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964080	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973897	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974601	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73133809	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133816	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73133851	0.87[EUR][1000 genomes]
rs73133859	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135909	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137960	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137963	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137978	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73139941	0.84[EUR][1000 genomes]
rs73139976	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73141980	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73143921	0.83[EUR][1000 genomes]
rs73152719	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785883	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7809359	0.86[EUR][1000 genomes]
rs7809535	0.86[EUR][1000 genomes]
rs9654843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73135950	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs73135950	GS1-124K5.12	cis	Artery Tibial	GTEx
rs73135950	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66148000-66161800	Weak transcription	Left Ventricle	heart
2	chr7:66148000-66161800	Weak transcription	Right Atrium	heart
3	chr7:66148000-66165600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:66148000-66177600	Weak transcription	Aorta	Aorta
5	chr7:66148200-66161800	Weak transcription	Psoas Muscle	Psoas
6	chr7:66148200-66162000	Weak transcription	Gastric	stomach
7	chr7:66148200-66162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:66148200-66175600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:66148400-66161600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:66148400-66161600	Weak transcription	Brain Substantia Nigra	brain
11	chr7:66148400-66161800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:66148400-66161800	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:66148400-66178400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:66148400-66182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:66148400-66184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:66148400-66184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:66148600-66161800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:66148600-66161800	Weak transcription	NH-A	brain
19	chr7:66148600-66172400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:66148600-66177400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:66149000-66177600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
23	chr7:66149200-66161800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:66149600-66161800	Weak transcription	Adipose Nuclei	Adipose
25	chr7:66149600-66161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:66149600-66178400	Weak transcription	GM12878-XiMat	blood
27	chr7:66149600-66190200	Weak transcription	Hela-S3	cervix
28	chr7:66150400-66161600	Weak transcription	HepG2	liver
29	chr7:66151000-66161800	Weak transcription	Right Ventricle	heart
30	chr7:66151400-66178400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:66153400-66178400	Weak transcription	Fetal Kidney	kidney
32	chr7:66153400-66182200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:66153600-66172200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:66153600-66174200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:66153800-66167800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:66154000-66172600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:66154200-66172400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:66154200-66177400	Weak transcription	Fetal Intestine Large	intestine
39	chr7:66155200-66178400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:66156600-66161800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:66157200-66161800	Strong transcription	Fetal Stomach	stomach
42	chr7:66157800-66161600	Weak transcription	Stomach Mucosa	stomach
43	chr7:66157800-66162000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:66158000-66177200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:66158200-66162000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:66158400-66161800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:66158400-66165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:66158600-66162000	Weak transcription	Spleen	Spleen
49	chr7:66158800-66170200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:66159000-66180000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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