Variant report

Variant	rs62448193
Chromosome Location	chr7:12961979-12961980
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12724061..12726495-chr7:12959611..12962564,2	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
ENSG00000271253	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs28587853	0.82[EUR][1000 genomes]
rs57183141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61324950	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61620655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62445809	1.00[AMR][1000 genomes]
rs62445811	1.00[AMR][1000 genomes]
rs62445812	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62445825	0.81[EUR][1000 genomes]
rs62445826	0.81[EUR][1000 genomes]
rs62445827	0.81[EUR][1000 genomes]
rs62445828	1.00[AMR][1000 genomes]
rs62445829	1.00[AMR][1000 genomes]
rs62445834	0.81[EUR][1000 genomes]
rs62445837	0.81[EUR][1000 genomes]
rs62445838	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62445851	0.81[EUR][1000 genomes]
rs62445853	0.81[EUR][1000 genomes]
rs62445854	0.81[EUR][1000 genomes]
rs62445855	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62445856	0.81[EUR][1000 genomes]
rs62445857	0.81[EUR][1000 genomes]
rs62448170	1.00[AMR][1000 genomes]
rs62448183	1.00[AMR][1000 genomes]
rs62448187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62448189	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62448190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62448191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7780699	0.81[EUR][1000 genomes]
rs7793712	0.81[EUR][1000 genomes]
rs7796721	0.81[EUR][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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12961000-12962000	Enhancers	A549	lung
2	chr7:12961200-12962000	Enhancers	Stomach Mucosa	stomach
3	chr7:12961400-12962000	Enhancers	Fetal Intestine Large	intestine
4	chr7:12961400-12962000	Enhancers	HUVEC	blood vessel
5	chr7:12961400-12962200	Enhancers	Fetal Intestine Small	intestine
6	chr7:12961400-12962200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:12961400-12963600	Enhancers	NHEK	skin
8	chr7:12961400-12964400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12961400-12964400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:12961600-12962200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:12961800-12962800	Weak transcription	HMEC	breast

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