Variant report

Variant	rs34513914
Chromosome Location	chr3:23249513-23249514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23243580..23246628-chr3:23247045..23250539,6	MCF-7	breast:
2	chr3:23247857..23249626-chr3:23258764..23261200,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233153	Chromatin interaction
ENSG00000182247	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12106681	0.82[EUR][1000 genomes]
rs13060112	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13060251	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13063185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13067514	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13073761	0.83[AMR][1000 genomes]
rs13076527	0.89[AMR][1000 genomes]
rs13077333	0.81[EUR][1000 genomes]
rs13078970	0.82[EUR][1000 genomes]
rs13083654	0.81[EUR][1000 genomes]
rs13084250	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13085266	0.89[AMR][1000 genomes]
rs13087234	0.80[EUR][1000 genomes]
rs13087238	0.83[AMR][1000 genomes]
rs13087563	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13090633	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13092830	0.84[AMR][1000 genomes]
rs13099586	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13100605	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17012897	0.80[EUR][1000 genomes]
rs34239585	0.81[EUR][1000 genomes]
rs34443476	0.83[AMR][1000 genomes]
rs34474308	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34584255	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34619482	0.83[AMR][1000 genomes]
rs34732257	0.89[AMR][1000 genomes]
rs34743949	0.89[AMR][1000 genomes]
rs35096750	0.82[EUR][1000 genomes]
rs35190363	0.89[AMR][1000 genomes]
rs35230557	0.94[AMR][1000 genomes]
rs35240920	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35266274	0.81[EUR][1000 genomes]
rs35346188	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35402533	0.84[AMR][1000 genomes]
rs35587590	0.82[EUR][1000 genomes]
rs35657558	0.83[AMR][1000 genomes]
rs35743404	0.81[EUR][1000 genomes]
rs35776486	0.82[EUR][1000 genomes]
rs35892300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35902312	0.83[AMR][1000 genomes]
rs35928592	0.94[AMR][1000 genomes]
rs36060079	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36123979	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71317817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71317819	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71317820	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71317821	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71317822	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71317823	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71317824	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71317827	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71317829	0.82[EUR][1000 genomes]
rs71317834	0.89[AMR][1000 genomes]
rs71322171	0.89[AMR][1000 genomes]
rs71322172	0.83[AMR][1000 genomes]
rs71322173	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23245600-23251400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:23245600-23253400	Weak transcription	Lung	lung
3	chr3:23245800-23253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:23245800-23262800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:23246000-23253000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:23246000-23260800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:23246200-23251200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:23246200-23251200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:23246200-23251200	Weak transcription	Psoas Muscle	Psoas
10	chr3:23246200-23252200	Weak transcription	Fetal Stomach	stomach
11	chr3:23246200-23257200	Weak transcription	Ovary	ovary
12	chr3:23246200-23257400	Weak transcription	Left Ventricle	heart
13	chr3:23246200-23258800	Weak transcription	HSMM	muscle
14	chr3:23246200-23259000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:23246200-23259000	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:23246200-23259200	Weak transcription	NH-A	brain
17	chr3:23246200-23260600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:23246200-23264200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:23246400-23250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:23246400-23250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:23246400-23251000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:23246400-23251400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:23246400-23253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:23246400-23259400	Weak transcription	Osteobl	bone
25	chr3:23246400-23261200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr3:23246400-23273400	Weak transcription	Aorta	Aorta
27	chr3:23246600-23251200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:23246600-23251200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:23246600-23251200	Weak transcription	HMEC	breast
30	chr3:23246600-23251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:23246600-23252800	Weak transcription	HUVEC	blood vessel
32	chr3:23246600-23254800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:23246600-23258800	Weak transcription	Fetal Lung	lung
34	chr3:23246600-23259000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:23246600-23259000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:23246600-23259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:23246600-23259200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:23246600-23260000	Weak transcription	NHEK	skin
39	chr3:23246600-23260800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:23246600-23262400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:23246800-23251200	Weak transcription	Liver	Liver
42	chr3:23246800-23252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:23246800-23259000	Weak transcription	NHLF	lung
44	chr3:23246800-23259800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:23247000-23250600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:23247400-23258400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:23247800-23250400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:23248200-23249600	Weak transcription	Fetal Thymus	thymus
49	chr3:23248200-23250200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:23248200-23250600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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