Variant report

Variant	rs73168747
Chromosome Location	chr7:69361376-69361377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs1000874	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10081305	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10085600	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10156142	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1017113	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10215914	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10216097	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10216186	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228786	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10229336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10229578	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10229588	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10230356	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10230750	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10233869	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10234121	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10235098	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10239569	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10240462	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10242206	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10243408	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244001	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244128	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244247	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10244885	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245690	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245749	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10247386	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248237	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248401	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10254086	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10254871	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10255563	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10256512	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10257587	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10258846	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10259028	0.94[EUR][1000 genomes]
rs10262102	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10263467	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10266802	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10268729	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10269267	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10272781	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274099	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274419	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10275112	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10275721	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276322	0.94[EUR][1000 genomes]
rs10278001	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10278978	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279669	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279708	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10281537	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10452705	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10452739	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10487943	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950193	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762049	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763426	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11764277	0.85[EUR][1000 genomes]
rs11764397	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11764717	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764911	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11766980	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11768151	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769033	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769390	0.94[EUR][1000 genomes]
rs11769738	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770241	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770695	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11771751	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771768	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11771899	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11772602	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11975481	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11975506	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11979745	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12333653	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13362851	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13362865	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13437638	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17140755	0.87[EUR][1000 genomes]
rs17140759	0.87[EUR][1000 genomes]
rs17140783	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17140817	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140884	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17140938	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141168	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17141181	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141191	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141193	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17353920	0.81[EUR][1000 genomes]
rs17361825	0.87[EUR][1000 genomes]
rs17457910	0.81[EUR][1000 genomes]
rs17458713	0.81[EUR][1000 genomes]
rs2052124	0.81[EUR][1000 genomes]
rs2068718	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28393394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433534	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28489338	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28493290	0.87[EUR][1000 genomes]
rs28496072	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28502437	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28577243	0.85[EUR][1000 genomes]
rs28630917	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28657792	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2865804	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28812289	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28864527	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34080361	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800979	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41379648	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4305786	0.85[EUR][1000 genomes]
rs4364526	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4557583	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55654955	0.85[EUR][1000 genomes]
rs55756263	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55880824	0.85[EUR][1000 genomes]
rs56405888	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56999082	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57493471	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58626042	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58666988	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58863846	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61370051	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61424317	0.85[EUR][1000 genomes]
rs6460525	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6945524	0.81[EUR][1000 genomes]
rs6947326	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948174	0.94[EUR][1000 genomes]
rs6950638	0.87[EUR][1000 genomes]
rs6951770	0.85[EUR][1000 genomes]
rs6958450	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958714	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961682	0.94[EUR][1000 genomes]
rs6962237	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962338	0.81[EUR][1000 genomes]
rs6967788	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6968426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980305	0.90[ASN][1000 genomes]
rs717266	0.87[EUR][1000 genomes]
rs719294	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154605	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73160193	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73164795	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73166559	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73167506	0.87[EUR][1000 genomes]
rs73168739	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168740	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168758	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170834	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170852	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73170857	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73170864	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73172903	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740946	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777269	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777621	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7780835	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7781664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784950	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7797662	0.84[EUR][1000 genomes]
rs7801209	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7805165	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7806413	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7810982	0.85[EUR][1000 genomes]
rs917718	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs917725	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9690738	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9690769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1017390	chr7:69339404-69406232	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv538920	chr7:69339404-69406232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69338400-69367200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:69351200-69375400	Weak transcription	Fetal Stomach	stomach
4	chr7:69355200-69366800	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:69355400-69368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:69355400-69370600	Weak transcription	Fetal Brain Female	brain
7	chr7:69355400-69371200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:69355400-69372000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:69355400-69376600	Weak transcription	Ovary	ovary
10	chr7:69358000-69361600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:69359000-69371400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:69359000-69372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:69359200-69365400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:69360400-69361400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:69360600-69361400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:69360600-69371400	Enhancers	Dnd41	blood
17	chr7:69360800-69361400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:69361000-69361400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:69361000-69361400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:69361000-69361400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:69361000-69361400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:69361000-69361600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:69361000-69361600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:69361000-69363800	Enhancers	Thymus	Thymus
25	chr7:69361000-69364600	Enhancers	GM12878-XiMat	blood
26	chr7:69361000-69365000	Enhancers	Fetal Thymus	thymus
27	chr7:69361200-69361400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:69361200-69361400	Enhancers	Fetal Brain Male	brain
29	chr7:69361200-69361400	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:69361200-69361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:69361200-69361600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:69361200-69361600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:69361200-69362800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:69361200-69363000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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