Variant report

Variant	rs7564072
Chromosome Location	chr2:55607144-55607145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55596421..55599307-chr2:55605325..55607627,2	MCF-7	breast:
2	chr2:55599888..55601639-chr2:55606569..55609062,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11884873	0.83[AFR][1000 genomes]
rs11894557	0.83[AFR][1000 genomes]
rs11898619	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11898783	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11903188	0.83[AFR][1000 genomes]
rs11904203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904613	0.86[AFR][1000 genomes]
rs17046882	0.83[AFR][1000 genomes]
rs17046915	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56020076	0.90[AFR][1000 genomes]
rs56214821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58022381	0.83[AFR][1000 genomes]
rs60182713	0.82[AFR][1000 genomes]
rs6718645	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6739731	0.89[AFR][1000 genomes]
rs6759310	0.81[EUR][1000 genomes]
rs73938301	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73939645	0.97[AFR][1000 genomes]
rs73939646	1.00[AFR][1000 genomes]
rs73939825	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73939827	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578788	1.00[AMR][1000 genomes];0.89[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	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv874158	chr2:55513738-55619923	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv874159	chr2:55513738-55636351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
2	chr2:55537800-55609400	Weak transcription	Lung	lung
3	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:55555200-55635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:55572000-55610200	Weak transcription	Liver	Liver
6	chr2:55576000-55612200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
8	chr2:55579400-55614400	Weak transcription	Fetal Brain Female	brain
9	chr2:55579400-55622400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:55579600-55632200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:55582000-55632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:55582800-55615000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:55583600-55607200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:55584200-55612000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:55589400-55639400	Weak transcription	Aorta	Aorta
17	chr2:55589600-55628800	Weak transcription	Fetal Thymus	thymus
18	chr2:55589600-55632200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:55590400-55622400	Weak transcription	GM12878-XiMat	blood
20	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:55592000-55635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:55592200-55617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:55592200-55631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:55592800-55609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:55592800-55609600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:55592800-55615600	Weak transcription	NHEK	skin
27	chr2:55592800-55617800	Weak transcription	A549	lung
28	chr2:55592800-55626600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:55592800-55635600	Weak transcription	HSMMtube	muscle
30	chr2:55593000-55622400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:55593000-55622400	Weak transcription	Brain Anterior Caudate	brain
32	chr2:55593200-55611000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:55593200-55632600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:55593400-55616400	Weak transcription	HUVEC	blood vessel
35	chr2:55593800-55631800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:55596600-55608400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:55598000-55611200	Weak transcription	Fetal Stomach	stomach
38	chr2:55598200-55616200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:55599200-55626800	Weak transcription	Osteobl	bone
40	chr2:55600000-55608000	Weak transcription	HSMM	muscle
41	chr2:55600000-55617600	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:55600600-55607800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:55600600-55609200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:55600600-55616200	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:55600600-55617400	Weak transcription	K562	blood
46	chr2:55600600-55617800	Weak transcription	Fetal Lung	lung
47	chr2:55600600-55631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:55600800-55629400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:55600800-55629400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:55601200-55611800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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