Variant report

Variant	rs6687994
Chromosome Location	chr1:93277037-93277038
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93271712..93273787-chr1:93276299..93278239,2	K562	blood:
2	chr1:93249434..93252765-chr1:93275686..93278447,3	K562	blood:
3	chr1:93268938..93271046-chr1:93276676..93278269,2	K562	blood:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10782944	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874742	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029026	0.85[ASN][1000 genomes]
rs1411706	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1467559	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1610319	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1929138	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977225	0.85[EUR][1000 genomes]
rs1977227	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1977228	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1977229	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2025100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244005	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244496	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391179	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2391192	0.81[EUR][1000 genomes]
rs2391193	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2774940	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774943	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811599	0.84[EUR][1000 genomes]
rs2811602	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989014	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4240962	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847221	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847222	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604025	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659942	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513624	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527343	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7527356	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532731	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541829	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543964	0.90[ASN][1000 genomes]
rs7551340	0.90[ASN][1000 genomes]
rs9439924	0.90[ASN][1000 genomes]
rs9662515	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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93274600-93277200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:93274800-93283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:93275200-93278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:93276800-93277200	Enhancers	Placenta	Placenta
5	chr1:93276800-93277200	Enhancers	K562	blood

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