Variant report

Variant	rs6660663
Chromosome Location	chr1:46994507-46994508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46993019..46995124-chr1:46997207..47000193,2	K562	blood:
2	chr1:46986798..46990832-chr1:46991693..46995331,8	K562	blood:
3	chr1:46985914..46991197-chr1:46993744..46997835,5	K562	blood:
4	chr1:46941803..46948881-chr1:46990723..46995697,8	K562	blood:
5	chr1:46868105..46870375-chr1:46993697..46996045,2	K562	blood:
6	chr1:46943126..46948119-chr1:46990723..46995697,9	K562	blood:
7	chr1:46992642..46995559-chr1:47183422..47185520,2	MCF-7	breast:
8	chr1:46942785..46943861-chr1:46992873..46994875,44	K562	blood:
9	chr1:46872069..46872673-chr1:46993338..46994804,8	K562	blood:
10	chr1:46938517..46940978-chr1:46993315..46995791,2	K562	blood:
11	chr1:46952733..46954545-chr1:46992927..46994561,12	K562	blood:
12	chr1:46979573..46981984-chr1:46991626..46994560,2	K562	blood:
13	chr1:46907653..46908944-chr1:46993306..46995074,20	K562	blood:
14	chr1:46992924..46995124-chr1:46996235..46998707,2	K562	blood:
15	chr1:46992147..46995347-chr1:47008706..47012363,4	K562	blood:
16	chr1:46957824..46960090-chr1:46991984..46994701,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159658	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11211298	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1258022	1.00[GIH][hapmap]
rs1258028	1.00[EUR][1000 genomes]
rs1258040	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1258042	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1258046	1.00[EUR][1000 genomes]
rs1320556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13373780	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17102252	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486164	1.00[EUR][1000 genomes]
rs2486165	1.00[EUR][1000 genomes]
rs59291308	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60242607	1.00[EUR][1000 genomes]
rs60309634	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60791879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61011128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61629467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61691256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72894662	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72894674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7515750	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7518867	0.94[ASN][1000 genomes]
rs7525300	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556404	0.90[ASN][1000 genomes]
rs942253	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1010578	chr1:46977818-47010579	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46988800-46998600	Weak transcription	Right Ventricle	heart
2	chr1:46989000-46999000	Weak transcription	Gastric	stomach
3	chr1:46989200-46998600	Weak transcription	Right Atrium	heart
4	chr1:46992600-46995000	Enhancers	Hela-S3	cervix
5	chr1:46993800-46997400	Weak transcription	Spleen	Spleen
6	chr1:46993800-46998400	Weak transcription	A549	lung
7	chr1:46994000-46995000	Bivalent Enhancer	NHEK	skin
8	chr1:46994000-46995400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:46994200-47000800	Weak transcription	K562	blood
10	chr1:46994400-46994600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr1:46994400-46995000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr1:46994400-46995000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:46994400-46996200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:46994400-46998800	Weak transcription	Pancreas	Pancrea

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