Variant report

Variant	rs73135973
Chromosome Location	chr7:66169932-66169933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66162948..66164627-chr7:66168480..66170244,2	MCF-7	breast:
2	chr7:66163629..66166262-chr7:66168489..66172112,3	K562	blood:
3	chr7:66167573..66170177-chr7:66193473..66196391,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10081172	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10156059	0.83[EUR][1000 genomes]
rs10224189	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10224536	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10225392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10226191	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10226294	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10228381	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10229580	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231860	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234640	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10235037	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10236665	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237244	0.83[EUR][1000 genomes]
rs10239200	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241395	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10243608	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10244459	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244602	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10245017	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10247324	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10247815	0.85[EUR][1000 genomes]
rs10247852	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10252133	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10255813	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10256117	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257393	0.83[EUR][1000 genomes]
rs10262184	0.82[AFR][1000 genomes]
rs10264619	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10265154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10266041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267834	0.86[EUR][1000 genomes]
rs10270326	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271177	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10273320	0.87[EUR][1000 genomes]
rs10273402	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10275413	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10277231	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10278343	0.87[EUR][1000 genomes]
rs10278763	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280431	0.81[EUR][1000 genomes]
rs10280717	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10280816	0.80[EUR][1000 genomes]
rs10281544	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10281734	0.83[EUR][1000 genomes]
rs10282522	0.83[EUR][1000 genomes]
rs10479728	0.87[EUR][1000 genomes]
rs1060527	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12234826	0.87[EUR][1000 genomes]
rs12333749	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12334214	0.83[EUR][1000 genomes]
rs13437901	0.83[EUR][1000 genomes]
rs16868546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17138208	0.83[EUR][1000 genomes]
rs17138274	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17747927	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882656	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882657	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895134	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2013707	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28368585	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28375318	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28379824	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28455065	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28472679	0.83[EUR][1000 genomes]
rs28474923	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28501161	0.83[EUR][1000 genomes]
rs28526115	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28533332	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28547918	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28606020	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28607736	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28615327	0.80[EUR][1000 genomes]
rs28634091	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28641990	0.83[EUR][1000 genomes]
rs28657758	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28663128	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28675035	0.83[EUR][1000 genomes]
rs3757419	0.82[EUR][1000 genomes]
rs3764904	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778908	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800814	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814464	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3823607	0.83[EUR][1000 genomes]
rs3962133	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587218	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57774708	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57875851	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57902746	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58123804	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58973756	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59079543	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60026498	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60344524	0.88[ASN][1000 genomes]
rs61700307	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6964080	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973897	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974601	0.87[EUR][1000 genomes]
rs73133809	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73133816	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73133851	0.88[EUR][1000 genomes]
rs73133859	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73133865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135905	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135907	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135909	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137960	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137963	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137978	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73139941	0.83[EUR][1000 genomes]
rs73139976	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73141980	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73143921	0.82[EUR][1000 genomes]
rs73152719	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785883	0.81[AMR][1000 genomes]
rs7809359	0.83[EUR][1000 genomes]
rs7809535	0.83[EUR][1000 genomes]
rs9654843	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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
rs73135973	GS1-124K5.12	cis	Artery Tibial	GTEx
rs73135973	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73135973	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66148000-66177600	Weak transcription	Aorta	Aorta
2	chr7:66148200-66175600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:66148400-66178400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:66148400-66182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:66148400-66184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:66148400-66184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:66148600-66172400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:66148600-66177400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:66149000-66177600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
11	chr7:66149600-66178400	Weak transcription	GM12878-XiMat	blood
12	chr7:66149600-66190200	Weak transcription	Hela-S3	cervix
13	chr7:66151400-66178400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:66153400-66178400	Weak transcription	Fetal Kidney	kidney
15	chr7:66153400-66182200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:66153600-66172200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:66153600-66174200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:66154000-66172600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:66154200-66172400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:66154200-66177400	Weak transcription	Fetal Intestine Large	intestine
21	chr7:66155200-66178400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:66158000-66177200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:66158800-66170200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:66159000-66180000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:66159200-66175400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:66159400-66180000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:66159600-66172600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:66159600-66178000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:66159600-66178400	Weak transcription	Primary T cells from cord blood	blood
30	chr7:66159600-66190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:66159800-66177800	Weak transcription	HSMMtube	muscle
32	chr7:66159800-66180800	Weak transcription	Brain Germinal Matrix	brain
33	chr7:66160000-66177400	Weak transcription	Liver	Liver
34	chr7:66160200-66172600	Weak transcription	Fetal Lung	lung
35	chr7:66160600-66172400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:66162200-66172600	Weak transcription	Fetal Brain Female	brain
37	chr7:66162200-66177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:66162400-66177600	Weak transcription	Placenta	Placenta
39	chr7:66162400-66189400	Weak transcription	Psoas Muscle	Psoas
40	chr7:66162600-66172800	Weak transcription	Brain Substantia Nigra	brain
41	chr7:66162600-66174200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:66162600-66175800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:66162600-66177400	Weak transcription	NHLF	lung
44	chr7:66162600-66178400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:66162600-66178400	Weak transcription	NHEK	skin
46	chr7:66162600-66180600	Weak transcription	HMEC	breast
47	chr7:66162600-66192400	Weak transcription	NH-A	brain
48	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
49	chr7:66162800-66172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:66162800-66177600	Weak transcription	Muscle Satellite Cultured Cells	--

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