Variant report

Variant	rs73854749
Chromosome Location	chr3:119664270-119664271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119662709..119665581-chr3:119665685..119667851,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55695126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55954491	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56198526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58540702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6804704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854726	0.89[AFR][1000 genomes]
rs73854728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854765	1.00[AMR][1000 genomes]
rs73854767	1.00[AMR][1000 genomes]
rs7626888	1.00[AMR][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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
3	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
4	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
5	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
6	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
7	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
10	chr3:119635400-119664600	Weak transcription	HMEC	breast
11	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:119640600-119664400	Weak transcription	HSMM	muscle
13	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:119640600-119672400	Weak transcription	Osteobl	bone
15	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
16	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
18	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
19	chr3:119641200-119664400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:119641200-119666400	Weak transcription	HepG2	liver
21	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:119642200-119665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
24	chr3:119650200-119669800	Weak transcription	Liver	Liver
25	chr3:119650400-119669600	Weak transcription	Left Ventricle	heart
26	chr3:119653600-119669600	Weak transcription	Ovary	ovary
27	chr3:119656400-119669400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:119656400-119680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:119656400-119681200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:119656400-119700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:119656600-119669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:119658000-119669800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:119658200-119664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:119658200-119669000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:119658200-119669400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:119658200-119669600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:119658400-119669400	Weak transcription	Brain Angular Gyrus	brain
39	chr3:119658400-119688400	Weak transcription	NHEK	skin
40	chr3:119658400-119688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:119658800-119667000	Weak transcription	Stomach Mucosa	stomach
42	chr3:119661000-119667000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:119661600-119665000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:119661600-119665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:119662000-119684800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:119662200-119664600	Weak transcription	HUVEC	blood vessel
47	chr3:119662400-119664800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:119662400-119700400	Weak transcription	Fetal Intestine Large	intestine
49	chr3:119662600-119664400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:119662600-119664600	Enhancers	Small Intestine	intestine

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