Variant report

Variant	rs72756185
Chromosome Location	chr5:50234945-50234946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50233489..50235241-chr5:50248596..50251574,2	K562	blood:
2	chr5:50227478..50230397-chr5:50232947..50234974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251601	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16884937	1.00[AFR][1000 genomes]
rs72756139	1.00[AFR][1000 genomes]
rs72756140	1.00[AFR][1000 genomes]
rs72756164	1.00[AFR][1000 genomes]
rs72756180	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv511286	chr5:50231548-50254200	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3325778	chr5:50232395-50240693	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv598117	chr5:50233199-50236505	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv598118	chr5:50233199-50238827	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv436476	chr5:50233884-50239735	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2530506	chr5:50234019-50240297	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2092918	chr5:50234218-50239675	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3469213	chr5:50234250-50239572	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv513236	chr5:50234284-50239696	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3360478	chr5:50234295-50239535	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3469212	chr5:50234306-50239538	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3469214	chr5:50234320-50239514	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv10956	chr5:50234326-50239097	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3469215	chr5:50234364-50239474	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3469216	chr5:50234381-50239468	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv598119	chr5:50234504-50236505	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv598120	chr5:50234504-50236839	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv598121	chr5:50234504-50237525	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv598122	chr5:50234504-50237844	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv598123	chr5:50234504-50238084	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv598124	chr5:50234504-50238357	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv598125	chr5:50234504-50238519	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv598126	chr5:50234678-50238357	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv598127	chr5:50234678-50238519	Inactive region	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv598128	chr5:50234678-50238827	Inactive region	Chromatin interactive region	1 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
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