Variant report

Variant	rs13166383
Chromosome Location	chr5:75442871-75442872
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75441859..75445534-chr5:75469171..75472141,3	K562	blood:

Variant related genes	Relation type
ENSG00000254893	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10514060	1.00[CEU][hapmap]
rs10514061	1.00[CEU][hapmap]
rs11950028	1.00[YRI][hapmap]
rs12153396	0.89[CEU][hapmap]
rs12188309	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12653182	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs13155330	1.00[CEU][hapmap]
rs13164604	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13165397	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13167138	0.91[CEU][hapmap]
rs13168590	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13170038	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13179555	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13184915	1.00[CEU][hapmap]
rs13185101	0.82[EUR][1000 genomes]
rs13186671	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13187212	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17565925	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17565946	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17565960	1.00[CEU][hapmap]
rs17651014	1.00[CEU][hapmap]
rs17651079	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17651269	1.00[CEU][hapmap]
rs34101768	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34513022	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34667328	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34715685	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34851212	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34942575	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34951990	0.85[EUR][1000 genomes]
rs35273704	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35411065	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35634088	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67451909	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67657625	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67940529	0.81[EUR][1000 genomes]
rs71630904	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71630905	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72773734	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72773753	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34707	chr5:75429015-75450144	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1021722	chr5:75429015-75450547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1019869	chr5:75431439-75446612	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv818353	chr5:75431439-75450127	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1018966	chr5:75431439-75450547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2763917	chr5:75431439-75450559	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv516875	chr5:75431439-75455251	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv598677	chr5:75431439-75455251	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1033837	chr5:75432737-75450547	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1021628	chr5:75435313-75450547	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1015349	chr5:75439222-75450132	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75442200-75449800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:75442400-75443200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:75442600-75443200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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