Variant report

Variant	rs7997147
Chromosome Location	chr13:80487669-80487670
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1006458	0.91[EUR][1000 genomes]
rs11840740	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11843138	0.98[ASN][1000 genomes]
rs12323034	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12323035	0.92[ASN][1000 genomes]
rs12583025	0.98[ASN][1000 genomes]
rs12583645	0.98[ASN][1000 genomes]
rs12861375	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867413	0.81[ASN][1000 genomes]
rs12868561	0.81[ASN][1000 genomes]
rs12876835	0.95[ASN][1000 genomes]
rs13378771	0.83[ASN][1000 genomes]
rs1811362	0.94[ASN][1000 genomes]
rs2007276	0.83[ASN][1000 genomes]
rs2118798	0.81[ASN][1000 genomes]
rs2304638	0.97[ASN][1000 genomes]
rs2329003	0.97[ASN][1000 genomes]
rs2329148	0.81[ASN][1000 genomes]
rs34710670	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36063327	0.97[ASN][1000 genomes]
rs3850060	0.83[EUR][1000 genomes]
rs3850064	0.81[ASN][1000 genomes]
rs3861143	0.99[ASN][1000 genomes]
rs3861144	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3898550	0.83[ASN][1000 genomes]
rs3898551	0.83[ASN][1000 genomes]
rs3916021	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4052505	0.97[ASN][1000 genomes]
rs4533153	0.83[ASN][1000 genomes]
rs4884141	0.83[ASN][1000 genomes]
rs4884142	0.83[ASN][1000 genomes]
rs4885680	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4885681	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4885683	0.92[ASN][1000 genomes]
rs55978445	0.81[ASN][1000 genomes]
rs57067871	0.80[ASN][1000 genomes]
rs6563146	0.80[ASN][1000 genomes]
rs6563150	0.97[ASN][1000 genomes]
rs7318554	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7329042	0.83[ASN][1000 genomes]
rs7329614	0.82[ASN][1000 genomes]
rs7330635	0.83[ASN][1000 genomes]
rs7332417	0.97[ASN][1000 genomes]
rs7333212	0.81[ASN][1000 genomes]
rs7336725	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7982819	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7995887	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9318660	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9318662	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9318663	0.94[ASN][1000 genomes]
rs9545250	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9545261	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9545268	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565536	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9593417	0.83[ASN][1000 genomes]
rs9593418	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9593420	0.94[ASN][1000 genomes]
rs9593421	0.98[ASN][1000 genomes]
rs9601281	0.80[ASN][1000 genomes]
rs9601283	0.83[ASN][1000 genomes]
rs9601286	0.82[ASN][1000 genomes]
rs9601288	0.84[ASN][1000 genomes]
rs9601289	0.84[ASN][1000 genomes]
rs9601290	0.84[ASN][1000 genomes]
rs9601291	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9601293	0.97[ASN][1000 genomes]
rs9601294	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs996823	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv438256	chr13:80479404-80503110	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832658	chr13:80486980-80680221	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80479800-80489000	Weak transcription	Brain Angular Gyrus	brain
2	chr13:80483400-80488800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr13:80484400-80492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:80485400-80488800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:80485400-80488800	Weak transcription	Fetal Lung	lung
6	chr13:80485400-80488800	Weak transcription	Psoas Muscle	Psoas
7	chr13:80485400-80489000	Weak transcription	Brain Anterior Caudate	brain
8	chr13:80485400-80489000	Weak transcription	Left Ventricle	heart
9	chr13:80485400-80492800	Weak transcription	Aorta	Aorta
10	chr13:80485400-80492800	Weak transcription	Brain Substantia Nigra	brain
11	chr13:80485600-80493400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:80485800-80489000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:80485800-80489200	Weak transcription	Fetal Heart	heart
14	chr13:80486400-80487800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr13:80486400-80489200	Enhancers	HUVEC	blood vessel
16	chr13:80486600-80488200	Enhancers	Hela-S3	cervix
17	chr13:80486800-80488200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:80486800-80489200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:80487000-80488400	Weak transcription	Fetal Brain Male	brain
20	chr13:80487200-80488200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:80487200-80488200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:80487200-80488400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr13:80487400-80487800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:80487400-80487800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr13:80487400-80487800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:80487400-80487800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:80487400-80487800	Enhancers	NHDF-Ad	bronchial
28	chr13:80487400-80488200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:80487400-80488400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:80487400-80493000	Weak transcription	HSMMtube	muscle
31	chr13:80487600-80487800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:80487600-80488200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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