Variant report

Variant	rs996823
Chromosome Location	chr13:80458679-80458680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1006458	0.86[ASN][1000 genomes]
rs11838566	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11840740	0.82[ASN][1000 genomes]
rs11841357	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11843138	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12323034	0.86[ASN][1000 genomes]
rs12323035	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12583025	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12583645	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12861375	0.83[ASN][1000 genomes]
rs12876835	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13378771	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1811362	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2007276	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304638	0.81[ASN][1000 genomes]
rs2329003	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2329148	0.81[EUR][1000 genomes]
rs34622893	0.81[EUR][1000 genomes]
rs36063327	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3850061	0.86[EUR][1000 genomes]
rs3850062	0.86[EUR][1000 genomes]
rs3850064	0.86[EUR][1000 genomes]
rs3861143	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3898550	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3898551	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3916021	0.83[ASN][1000 genomes]
rs4052505	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4514565	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4533153	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4884141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4884142	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4885680	0.88[ASN][1000 genomes]
rs4885681	0.90[ASN][1000 genomes]
rs4885683	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55978445	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57067871	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6563146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563150	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7329042	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7329614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7330635	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7332417	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7333212	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336725	0.80[ASN][1000 genomes]
rs7982819	0.80[ASN][1000 genomes]
rs7997147	0.83[ASN][1000 genomes]
rs9318660	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9318663	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9545250	0.90[ASN][1000 genomes]
rs9545268	0.81[ASN][1000 genomes]
rs9565536	0.90[ASN][1000 genomes]
rs9593417	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9593418	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9593419	0.83[EUR][1000 genomes]
rs9593420	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9593421	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9601280	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9601281	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9601283	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9601285	0.85[EUR][1000 genomes]
rs9601286	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9601288	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9601289	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9601290	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9601291	0.80[ASN][1000 genomes]
rs9601293	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9601294	0.80[ASN][1000 genomes]
rs9805460	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs996824	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv3519064	chr13:80454760-80460250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
2	esv3519075	chr13:80454760-80460250	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv17425	chr13:80454929-80460045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	nsv562416	chr13:80456018-80459531	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80449000-80472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80449400-80458800	Weak transcription	Thymus	Thymus
3	chr13:80452800-80459000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:80455400-80461400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:80456200-80458800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr13:80456200-80459200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr13:80456200-80461400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:80457600-80459400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:80457800-80459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:80457800-80459400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:80458000-80459200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:80458200-80459400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:80458200-80459600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:80458400-80459400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:80458400-80459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:80458600-80459600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:80458600-80459600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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