Variant report

Variant	rs73227949
Chromosome Location	chr12:122122761-122122762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122122153..122127459-chr12:122235506..122240049,10	MCF-7	breast:
2	chr12:122103388..122106454-chr12:122121633..122126620,5	K562	blood:
3	chr12:121903995..121905837-chr12:122120190..122123061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35343615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760119	1.00[EUR][1000 genomes]
rs4760120	1.00[EUR][1000 genomes]
rs4760122	1.00[EUR][1000 genomes]
rs4760124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981001	1.00[AMR][1000 genomes]
rs55692746	1.00[EUR][1000 genomes]
rs55699326	0.96[EUR][1000 genomes]
rs55911302	1.00[EUR][1000 genomes]
rs56166919	1.00[EUR][1000 genomes]
rs56790499	0.82[EUR][1000 genomes]
rs57099146	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57195740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58648683	1.00[EUR][1000 genomes]
rs59143714	1.00[EUR][1000 genomes]
rs59976026	1.00[EUR][1000 genomes]
rs60637634	1.00[EUR][1000 genomes]
rs73227908	1.00[AMR][1000 genomes]
rs73227911	1.00[AMR][1000 genomes]
rs73227927	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73227935	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73227941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397580	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7486943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122111400-122124200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122111400-122124400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122111600-122124600	Weak transcription	Fetal Kidney	kidney
5	chr12:122117000-122125800	Weak transcription	K562	blood
6	chr12:122117200-122123800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:122117200-122125000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:122117400-122123600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:122117600-122124200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:122117600-122124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:122117800-122124200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:122117800-122124800	Weak transcription	Brain Substantia Nigra	brain
13	chr12:122118000-122124200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:122118000-122125000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:122118600-122124200	Weak transcription	Placenta	Placenta
16	chr12:122118800-122124400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:122120000-122124200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:122120200-122124200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:122120200-122124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:122120200-122124400	Weak transcription	Hela-S3	cervix
21	chr12:122120200-122125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:122120400-122123600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:122120400-122123600	Weak transcription	Fetal Thymus	thymus
24	chr12:122120400-122123800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:122120400-122123800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:122120400-122124200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122120600-122122800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:122120600-122123600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:122120600-122123800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:122120600-122123800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:122120600-122124200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:122121000-122124200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
34	chr12:122122600-122125000	Weak transcription	HepG2	liver

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