Variant report

Variant	rs2218271
Chromosome Location	chr8:58052446-58052447
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:58052400-58052550	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58048196..58050433-chr8:58051015..58053775,2	K562	blood:

Variant related genes	Relation type
ENSG00000253301	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10504217	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10958522	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10958523	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10958525	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11774585	0.82[CEU][hapmap]
rs11774645	0.86[CEU][hapmap]
rs11774697	0.86[CEU][hapmap]
rs11775568	0.85[CEU][hapmap]
rs11777459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781690	0.82[CEU][hapmap]
rs11781834	0.82[CEU][hapmap]
rs11782197	0.88[ASN][1000 genomes]
rs11782217	0.88[ASN][1000 genomes]
rs11783963	0.82[CEU][hapmap]
rs11783965	0.82[CEU][hapmap]
rs11785258	0.81[CEU][hapmap]
rs11785260	0.82[CEU][hapmap]
rs11786043	0.82[CEU][hapmap]
rs11786074	0.86[CEU][hapmap]
rs11786328	1.00[CEU][hapmap]
rs11786527	0.81[CEU][hapmap]
rs11786843	0.82[CEU][hapmap]
rs11787247	0.81[CEU][hapmap]
rs12375445	1.00[CEU][hapmap]
rs12675340	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1442125	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1596142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16921589	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16921623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16921626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16921675	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16921676	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16921677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921688	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16921808	0.89[CEU][hapmap]
rs17192845	1.00[CEU][hapmap]
rs17194487	0.90[CEU][hapmap]
rs17801003	0.94[CEU][hapmap]
rs17801390	0.88[EUR][1000 genomes]
rs17802082	0.90[CEU][hapmap]
rs17804335	0.85[CEU][hapmap]
rs17804365	0.86[CEU][hapmap]
rs2014516	0.82[CEU][hapmap]
rs2317990	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4738578	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs58647001	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7000752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7010551	0.82[CEU][hapmap]
rs7013554	0.81[CEU][hapmap]
rs72649114	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72649115	0.83[EUR][1000 genomes]
rs72649117	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72649132	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72649133	0.87[EUR][1000 genomes]
rs7460059	0.82[CEU][hapmap]
rs7463453	0.81[CEU][hapmap]
rs7813252	0.82[CEU][hapmap]
rs7816733	0.82[CEU][hapmap]
rs7817188	0.81[CEU][hapmap]
rs7819097	0.83[ASN][1000 genomes]
rs7822631	0.82[CEU][hapmap]
rs7839948	0.82[CEU][hapmap]
rs7840100	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs882429	0.82[CEU][hapmap]
rs903702	0.82[CEU][hapmap]
rs903705	0.82[CEU][hapmap]
rs903706	0.82[CEU][hapmap]

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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv890933	chr8:58005923-58084006	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv890934	chr8:58037522-58112053	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv890935	chr8:58038406-58114743	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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