Variant report

Variant	rs73135909
Chromosome Location	chr7:66150181-66150182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66093496..66095365-chr7:66150110..66153018,2	MCF-7	breast:
2	chr7:66149593..66151566-chr7:66161338..66163693,2	K562	blood:
3	chr7:66145494..66148897-chr7:66149256..66153085,4	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000154710	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10081172	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10156059	0.84[EUR][1000 genomes]
rs10224189	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10224536	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10225392	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10226191	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10226294	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10228381	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10229580	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231860	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234640	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10235037	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10236665	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10237244	0.84[EUR][1000 genomes]
rs10239200	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240153	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240582	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241395	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10243608	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10244459	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244602	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245017	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10247324	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10247815	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10247852	0.81[AFR][1000 genomes];0.83[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	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256117	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10257393	0.84[EUR][1000 genomes]
rs10262184	0.89[AFR][1000 genomes]
rs10264619	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10265154	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266041	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267834	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10270326	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271177	1.00[AFR][1000 genomes];0.95[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];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10275413	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10277231	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[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];0.86[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];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281544	0.95[AMR][1000 genomes];1.00[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	0.88[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];0.90[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];0.81[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	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747927	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882656	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882657	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1895134	0.81[AFR][1000 genomes];0.81[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	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28379824	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28455065	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28474923	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28526115	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28533332	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28547918	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28606020	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28607736	0.86[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	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28657758	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28663128	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757419	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3764904	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778908	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800814	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814464	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3823607	0.84[EUR][1000 genomes]
rs3962133	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587218	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57774708	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57875851	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57902746	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58123804	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58973756	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59079543	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60026498	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60344524	0.83[ASN][1000 genomes]
rs61093354	0.80[EUR][1000 genomes]
rs61700307	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964080	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973897	1.00[AFR][1000 genomes];0.86[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	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133816	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73133851	0.89[EUR][1000 genomes]
rs73133859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133865	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135905	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135907	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135917	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135922	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135925	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135950	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135960	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135973	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137960	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137963	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[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	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73141980	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73148698	0.80[EUR][1000 genomes]
rs73152719	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809359	0.84[EUR][1000 genomes]
rs7809535	0.84[EUR][1000 genomes]
rs9654843	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv970870	chr7:66147890-66158166	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73135909	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs73135909	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs73135909	GS1-124K5.12	cis	Artery Tibial	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66148000-66157200	Weak transcription	Spleen	Spleen
2	chr7:66148000-66157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:66148000-66161800	Weak transcription	Left Ventricle	heart
4	chr7:66148000-66161800	Weak transcription	Right Atrium	heart
5	chr7:66148000-66165600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:66148000-66177600	Weak transcription	Aorta	Aorta
7	chr7:66148200-66157800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:66148200-66157800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:66148200-66157800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:66148200-66158400	Weak transcription	Primary T cells from cord blood	blood
11	chr7:66148200-66161800	Weak transcription	Psoas Muscle	Psoas
12	chr7:66148200-66162000	Weak transcription	Gastric	stomach
13	chr7:66148200-66162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:66148200-66175600	Weak transcription	Primary B cells from cord blood	blood
15	chr7:66148400-66150200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:66148400-66150200	Weak transcription	Right Ventricle	heart
17	chr7:66148400-66153000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:66148400-66153000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:66148400-66153200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:66148400-66153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:66148400-66153200	Weak transcription	Fetal Kidney	kidney
22	chr7:66148400-66157200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:66148400-66157400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:66148400-66157400	Weak transcription	Esophagus	oesophagus
25	chr7:66148400-66157400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:66148400-66157800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:66148400-66159000	Weak transcription	Placenta	Placenta
28	chr7:66148400-66159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:66148400-66159200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:66148400-66161600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:66148400-66161600	Weak transcription	Brain Substantia Nigra	brain
32	chr7:66148400-66161800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:66148400-66161800	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:66148400-66178400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:66148400-66182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:66148400-66184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:66148400-66184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:66148600-66150200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:66148600-66150400	Weak transcription	Fetal Brain Male	brain
40	chr7:66148600-66150400	Enhancers	HepG2	liver
41	chr7:66148600-66152400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:66148600-66153200	Weak transcription	Fetal Lung	lung
43	chr7:66148600-66157200	Weak transcription	Fetal Stomach	stomach
44	chr7:66148600-66157800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:66148600-66157800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:66148600-66157800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:66148600-66158600	Weak transcription	HSMMtube	muscle
48	chr7:66148600-66161800	Weak transcription	Brain Angular Gyrus	brain
49	chr7:66148600-66161800	Weak transcription	NH-A	brain
50	chr7:66148600-66172400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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