Variant report

Variant	rs72810307
Chromosome Location	chr2:58250607-58250608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58249060..58252224-chr2:58272620..58275638,4	MCF-7	breast:
2	chr2:58250269..58252783-chr2:58272137..58273810,2	K562	blood:
3	chr2:58247168..58251041-chr2:58272762..58276217,5	K562	blood:

Variant related genes	Relation type
ENSG00000028116	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10171955	0.83[ASN][1000 genomes]
rs10188390	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210198	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10496086	0.93[EUR][1000 genomes]
rs10496087	0.93[EUR][1000 genomes]
rs1078191	0.89[EUR][1000 genomes]
rs11898024	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12465171	0.94[EUR][1000 genomes]
rs12467842	0.92[EUR][1000 genomes]
rs12469522	0.85[EUR][1000 genomes]
rs12470851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471043	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473840	0.85[EUR][1000 genomes]
rs12478718	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13386389	0.88[EUR][1000 genomes]
rs1371212	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1401101	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1518403	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17049299	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17049308	0.97[ASN][1000 genomes]
rs17049312	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17049314	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17049316	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17049321	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17830749	0.98[EUR][1000 genomes]
rs2118897	0.93[EUR][1000 genomes]
rs34191187	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35876471	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771203	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55723561	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55856965	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61548822	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545679	0.85[ASN][1000 genomes]
rs6732965	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67484511	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808498	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72808501	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72810305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72810306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72810308	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72810316	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72810317	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810318	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72810320	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72810323	0.97[EUR][1000 genomes]
rs72810325	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72810332	0.88[EUR][1000 genomes]
rs72810334	0.89[EUR][1000 genomes]
rs72810337	0.86[EUR][1000 genomes]
rs728574	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968850	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58249600-58259800	Weak transcription	Ovary	ovary
2	chr2:58250000-58250800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:58250200-58250800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:58250200-58250800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:58250200-58251000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:58250400-58251000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:58250400-58251000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:58250400-58251200	Enhancers	Primary T cells from cord blood	blood
9	chr2:58250400-58251400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:58250400-58252000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:58250600-58251000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:58250600-58251200	Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:58250600-58251200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:58250600-58251400	Active TSS	GM12878-XiMat	blood
15	chr2:58250600-58251600	Enhancers	Primary B cells from cord blood	blood
16	chr2:58250600-58251600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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