Variant report

Variant	rs61783087
Chromosome Location	chr1:46999955-46999956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46995357..46997930-chr1:46998172..47001101,2	K562	blood:
2	chr1:46993019..46995124-chr1:46997207..47000193,2	K562	blood:
3	chr1:46999087..47000869-chr1:47002211..47004388,2	K562	blood:
4	chr1:46957792..46960290-chr1:46997960..47000154,2	K562	blood:
5	chr1:46999703..47001765-chr1:47004931..47007448,2	K562	blood:
6	chr1:46991343..46993867-chr1:46999372..47001574,2	K562	blood:

Variant related genes	Relation type
ENSG00000269956	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11588450	0.99[EUR][1000 genomes]
rs1267301	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1267302	0.88[EUR][1000 genomes]
rs1267304	0.84[EUR][1000 genomes]
rs1267306	0.81[AMR][1000 genomes]
rs1267308	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1267312	0.80[EUR][1000 genomes]
rs1267313	0.80[EUR][1000 genomes]
rs1267314	0.80[AMR][1000 genomes]
rs1745370	0.81[EUR][1000 genomes]
rs1745371	0.80[EUR][1000 genomes]
rs2404611	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476162	0.89[EUR][1000 genomes]
rs2476164	0.80[EUR][1000 genomes]
rs2486163	0.98[EUR][1000 genomes]
rs3737740	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57100184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59935547	0.98[EUR][1000 genomes]
rs61395024	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6670699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696219	0.99[EUR][1000 genomes]
rs6703148	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72894667	0.85[EUR][1000 genomes]
rs7519040	0.80[EUR][1000 genomes]
rs7524253	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7542296	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs942255	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	esv3359320	chr1:46997790-47000338	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46994200-47000800	Weak transcription	K562	blood
2	chr1:46998400-47000000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:46999000-47000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:46999600-47000000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
6	chr1:46999800-47000000	Enhancers	Spleen	Spleen
7	chr1:46999800-47001000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:46999800-47001000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:46999800-47001000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:46999800-47007600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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