Variant report

Variant	rs6460985
Chromosome Location	chr7:12923556-12923557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12918017..12920040-chr7:12923535..12925762,2	K562	blood:
2	chr7:12921059..12923794-chr7:12925432..12927147,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10229134	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10238211	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10243288	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10243324	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10246359	0.85[ASN][1000 genomes]
rs10269634	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10278442	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12669053	0.87[ASN][1000 genomes]
rs1476815	0.93[ASN][1000 genomes]
rs17619332	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1990346	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2109290	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2191265	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191267	0.84[ASN][1000 genomes]
rs2215333	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2215337	0.83[ASN][1000 genomes]
rs2357049	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357052	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357053	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28433921	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2884084	0.86[ASN][1000 genomes]
rs35490471	0.83[ASN][1000 genomes]
rs4260793	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4288267	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4719339	0.85[ASN][1000 genomes]
rs4721153	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62448164	0.88[ASN][1000 genomes]
rs6944255	0.82[ASN][1000 genomes]
rs6947361	0.87[ASN][1000 genomes]
rs6948576	0.93[ASN][1000 genomes]
rs6948718	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6949476	0.82[ASN][1000 genomes]
rs6950280	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6950340	0.83[ASN][1000 genomes]
rs6953097	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6959404	0.81[EUR][1000 genomes]
rs6959543	0.83[EUR][1000 genomes]
rs6960404	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6961897	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6965712	0.86[ASN][1000 genomes]
rs6969461	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6976082	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs758675	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7787464	0.86[ASN][1000 genomes]
rs7790527	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7793560	0.83[ASN][1000 genomes]
rs7800218	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7800522	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7800580	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7803338	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7809081	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7810511	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7811356	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2763624	chr7:12917029-12951820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12922200-12924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:12922200-12924600	Weak transcription	Aorta	Aorta
3	chr7:12922200-12928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:12922200-12934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:12922400-12923600	Weak transcription	A549	lung
6	chr7:12922400-12924400	Weak transcription	NHEK	skin
7	chr7:12923200-12923800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:12923200-12925200	Enhancers	HSMM	muscle
9	chr7:12923200-12925200	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links