Variant report

Variant	rs72992294
Chromosome Location	chr6:131019320-131019321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:130643524..130644551-chr6:131018759..131019797,15	MCF-7	breast:
2	chr6:130643796..130644450-chr6:131018869..131019419,2	MCF-7	breast:
3	chr6:131019021..131019768-chr6:131080914..131081754,2	MCF-7	breast:
4	chr6:130614261..130615556-chr6:131018820..131019730,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10485095	1.00[AFR][1000 genomes]
rs17059344	1.00[AFR][1000 genomes]
rs17059420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17059453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17059490	1.00[AFR][1000 genomes]
rs17059520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17059525	1.00[EUR][1000 genomes]
rs2221651	0.84[ASN][1000 genomes]
rs4144215	1.00[AFR][1000 genomes]
rs55925405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56116438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56275069	1.00[AFR][1000 genomes]
rs56684748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56725541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56771583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60789680	1.00[AFR][1000 genomes]
rs72499767	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72988292	1.00[AFR][1000 genomes]
rs72988295	1.00[AFR][1000 genomes]
rs72990208	1.00[AFR][1000 genomes]
rs72990221	1.00[AFR][1000 genomes]
rs72990296	1.00[AFR][1000 genomes]
rs72990301	1.00[AFR][1000 genomes]
rs72992209	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992224	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72992299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72994307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72994310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72994322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72994328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72996247	1.00[AFR][1000 genomes]
rs72996254	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996263	1.00[EUR][1000 genomes]
rs72996267	1.00[AFR][1000 genomes]
rs72996271	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996290	1.00[EUR][1000 genomes]
rs72996293	1.00[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522019	chr6:131017953-131019627	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131017600-131019600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:131017600-131019600	Enhancers	Osteobl	bone
3	chr6:131017800-131019400	Enhancers	NHEK	skin
4	chr6:131017800-131019600	Enhancers	Primary T cells from cord blood	blood
5	chr6:131017800-131019600	Enhancers	NHDF-Ad	bronchial
6	chr6:131018000-131019600	Enhancers	Dnd41	blood
7	chr6:131018000-131020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:131018200-131019400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:131018200-131019600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:131018200-131019600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:131018200-131019600	Enhancers	NH-A	brain
12	chr6:131018400-131019600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:131018400-131029200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:131019000-131019400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:131019000-131019400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:131019000-131019400	Enhancers	Fetal Thymus	thymus
17	chr6:131019000-131019600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:131019200-131019400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:131019200-131019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:131019200-131021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:131019200-131022400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:131019200-131023000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:131019200-131023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:131019200-131023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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