Variant report

Variant	rs73137960
Chromosome Location	chr7:66184878-66184879
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	chr7:66183509..66185499-chr7:66186909..66189328,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10081172	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10156059	0.82[EUR][1000 genomes]
rs10224189	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10224536	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10225392	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10226191	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10226294	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10228381	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10229580	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231860	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234640	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10234747	0.82[EUR][1000 genomes]
rs10235037	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10236665	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237244	0.82[EUR][1000 genomes]
rs10239200	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240153	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240582	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241395	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10243608	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10244459	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244602	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10245017	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10247324	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10247815	0.82[EUR][1000 genomes]
rs10247852	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10252133	0.82[EUR][1000 genomes]
rs10255813	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10256117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257393	0.82[EUR][1000 genomes]
rs10258628	0.82[EUR][1000 genomes]
rs10264619	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10265154	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10266041	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10266792	0.86[EUR][1000 genomes]
rs10267834	0.85[EUR][1000 genomes]
rs10270326	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271177	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273320	0.86[EUR][1000 genomes]
rs10273402	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10275413	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10277231	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10278343	0.86[EUR][1000 genomes]
rs10278763	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280431	0.80[EUR][1000 genomes]
rs10280717	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10281544	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10281734	0.82[EUR][1000 genomes]
rs10282310	0.82[EUR][1000 genomes]
rs10282522	0.86[EUR][1000 genomes]
rs10479728	0.86[EUR][1000 genomes]
rs1060527	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1064795	0.82[EUR][1000 genomes]
rs12234826	0.86[EUR][1000 genomes]
rs12333749	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12334214	0.82[EUR][1000 genomes]
rs13437901	0.82[EUR][1000 genomes]
rs13437994	0.86[EUR][1000 genomes]
rs13438432	0.82[EUR][1000 genomes]
rs16868546	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17138208	0.82[EUR][1000 genomes]
rs17138274	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17747927	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17748115	0.86[EUR][1000 genomes]
rs1882656	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882657	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895134	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2013707	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28368585	0.86[EUR][1000 genomes]
rs28375318	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28379824	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28455065	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28460006	0.82[EUR][1000 genomes]
rs28472679	0.84[EUR][1000 genomes]
rs28474923	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28501161	0.84[EUR][1000 genomes]
rs28526115	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28533332	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28547918	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28606020	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28607736	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28634091	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28641990	0.84[EUR][1000 genomes]
rs28657758	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28663128	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28675035	0.84[EUR][1000 genomes]
rs3764904	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778907	0.82[EUR][1000 genomes]
rs3778908	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800814	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814464	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3823607	0.86[EUR][1000 genomes]
rs3823609	0.82[EUR][1000 genomes]
rs3962133	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587218	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57774708	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57875851	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57902746	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58123804	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58973756	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59079543	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59693594	0.86[EUR][1000 genomes]
rs60026498	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60344524	0.88[ASN][1000 genomes]
rs61700307	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6964080	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973897	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974601	0.86[EUR][1000 genomes]
rs73133809	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73133816	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73133851	0.85[EUR][1000 genomes]
rs73133859	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73133865	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135905	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135907	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135909	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135917	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135922	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135925	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135950	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135960	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135973	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137963	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137978	0.96[ASN][1000 genomes]
rs73139941	0.86[EUR][1000 genomes]
rs73139976	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73141980	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73143921	0.81[EUR][1000 genomes]
rs73145924	0.86[EUR][1000 genomes]
rs73152719	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785883	0.81[AMR][1000 genomes]
rs7809359	0.84[EUR][1000 genomes]
rs7809535	0.84[EUR][1000 genomes]
rs9654843	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73137960	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73137960	GS1-124K5.12	cis	lung	GTEx
rs73137960	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs73137960	GS1-124K5.12	cis	Artery Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
2	chr7:66149600-66190200	Weak transcription	Hela-S3	cervix
3	chr7:66159600-66190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:66162400-66189400	Weak transcription	Psoas Muscle	Psoas
5	chr7:66162600-66192400	Weak transcription	NH-A	brain
6	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
7	chr7:66163000-66190800	Weak transcription	Esophagus	oesophagus
8	chr7:66165200-66189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:66165400-66188600	Weak transcription	Lung	lung
10	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:66165800-66197000	Weak transcription	Right Atrium	heart
12	chr7:66169000-66187400	Weak transcription	Small Intestine	intestine
13	chr7:66173000-66190400	Weak transcription	Fetal Heart	heart
14	chr7:66173200-66190600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:66174200-66190400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:66175000-66190800	Weak transcription	Pancreas	Pancrea
17	chr7:66175000-66190800	Weak transcription	Spleen	Spleen
18	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
19	chr7:66177200-66191200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:66177600-66193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:66178000-66186200	Weak transcription	Placenta	Placenta
22	chr7:66178600-66186400	Weak transcription	Aorta	Aorta
23	chr7:66178600-66188400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:66178600-66200400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:66178800-66186200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:66178800-66186600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:66178800-66190200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:66178800-66193600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:66178800-66197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:66179000-66189200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:66179000-66190000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:66179000-66190600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:66179000-66197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:66179200-66186200	Weak transcription	HSMM	muscle
35	chr7:66179200-66188000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:66179200-66188200	Weak transcription	Fetal Brain Male	brain
37	chr7:66179200-66189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:66179200-66190400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:66179200-66200600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:66179400-66185000	Weak transcription	Primary B cells from cord blood	blood
41	chr7:66179400-66187800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:66179400-66188200	Weak transcription	Dnd41	blood
43	chr7:66179400-66199800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:66179600-66186400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:66179600-66188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:66179600-66204600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:66180200-66190200	Weak transcription	NHLF	lung
48	chr7:66180400-66186200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:66180600-66186400	Weak transcription	Brain Angular Gyrus	brain
50	chr7:66180600-66189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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