Variant report

Variant	rs6860214
Chromosome Location	chr5:107149251-107149252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10066422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742684	0.81[ASN][1000 genomes]
rs11747409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748620	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033479	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2410957	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410958	0.95[EUR][1000 genomes]
rs2410959	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2898606	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34695771	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3843493	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3846692	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909359	0.87[ASN][1000 genomes]
rs3909360	0.87[ASN][1000 genomes]
rs3909361	0.81[ASN][1000 genomes]
rs3909362	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3931059	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3931060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3931725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4099186	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4099187	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4099188	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4099189	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4100173	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957541	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957721	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4957722	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55976515	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6596749	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6596750	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6596751	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6596754	0.94[ASN][1000 genomes]
rs6596755	0.84[ASN][1000 genomes]
rs6860370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860649	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867170	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6867698	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6868088	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6870561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871212	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6871231	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6875432	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6876427	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6879536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879852	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880537	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882183	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6885982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888461	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6889417	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6892119	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6892137	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6893393	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895001	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702274	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7704143	0.85[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	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1022155	chr5:107138981-107149604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107144400-107167600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:107144800-107150200	Weak transcription	Right Atrium	heart
3	chr5:107146600-107150000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:107146600-107152800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:107146800-107149600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:107147600-107150200	Enhancers	Fetal Muscle Leg	muscle
7	chr5:107147800-107150000	Flanking Active TSS	GM12878-XiMat	blood
8	chr5:107148000-107149400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:107148000-107149400	Enhancers	HSMM	muscle
10	chr5:107148000-107149400	Enhancers	HSMMtube	muscle
11	chr5:107148000-107149600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:107148000-107149600	Enhancers	NHLF	lung
13	chr5:107148000-107150200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:107148200-107149600	Enhancers	NHDF-Ad	bronchial
15	chr5:107148400-107149400	Enhancers	Osteobl	bone
16	chr5:107148400-107151000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:107148600-107150200	Weak transcription	Left Ventricle	heart
18	chr5:107148600-107150400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:107148600-107152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:107148600-107152800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:107148800-107149800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:107148800-107152800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:107149000-107149400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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