Variant report

Variant	rs72980304
Chromosome Location	chr3:133663101-133663102
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133650603..133653685-chr3:133661707..133664077,5	K562	blood:
2	chr3:133656338..133659550-chr3:133661023..133664144,3	K562	blood:
3	chr3:133662639..133665040-chr3:133666226..133667747,2	K562	blood:
4	chr3:133645800..133646515-chr3:133662541..133663120,2	K562	blood:
5	chr3:133662875..133664817-chr3:133717235..133719576,2	K562	blood:
6	chr3:133662409..133664357-chr3:133677457..133679955,3	K562	blood:
7	chr3:133655319..133659400-chr3:133660671..133664345,4	MCF-7	breast:
8	chr3:133662471..133664232-chr3:133672170..133673874,2	MCF-7	breast:

No data

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4643708	0.84[AFR][1000 genomes]
rs59416045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59935979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978388	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978391	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978396	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978398	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980351	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133651800-133663400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:133659200-133665400	Enhancers	Fetal Muscle Leg	muscle
3	chr3:133659800-133665400	Enhancers	Fetal Lung	lung
4	chr3:133659800-133665600	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:133659800-133665600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:133660000-133663400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:133660200-133663400	Enhancers	NHLF	lung
8	chr3:133660200-133665000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:133660200-133665000	Enhancers	Fetal Muscle Trunk	muscle
10	chr3:133660400-133663600	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:133660600-133664000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:133660800-133676400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:133661000-133665400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:133661000-133665800	Enhancers	Fetal Thymus	thymus
15	chr3:133661000-133667600	Enhancers	Psoas Muscle	Psoas
16	chr3:133661400-133664400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:133661400-133664600	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:133661400-133665400	Enhancers	Right Atrium	heart
19	chr3:133661400-133666200	Enhancers	Stomach Mucosa	stomach
20	chr3:133661800-133663200	Enhancers	HSMM	muscle
21	chr3:133661800-133663400	Enhancers	HMEC	breast
22	chr3:133661800-133663600	Enhancers	Colonic Mucosa	Colon
23	chr3:133661800-133663600	Enhancers	Right Ventricle	heart
24	chr3:133661800-133663800	Enhancers	Pancreas	Pancrea
25	chr3:133661800-133664600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:133661800-133664600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:133661800-133664800	Enhancers	Gastric	stomach
28	chr3:133661800-133665000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:133661800-133667800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:133662000-133664000	Enhancers	A549	lung
31	chr3:133662000-133664400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:133662000-133665000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:133662000-133665600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr3:133662000-133665800	Enhancers	Osteobl	bone
35	chr3:133662000-133667400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:133662000-133667800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:133662200-133663200	Enhancers	K562	blood
38	chr3:133662200-133663400	Enhancers	NHEK	skin
39	chr3:133662200-133664000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:133662200-133664000	Enhancers	Fetal Intestine Small	intestine
41	chr3:133662200-133664200	Enhancers	NHDF-Ad	bronchial
42	chr3:133662200-133664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:133662200-133665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:133662200-133665800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:133662400-133664000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:133662400-133665600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:133662600-133663200	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:133662600-133663400	Enhancers	Fetal Intestine Large	intestine
49	chr3:133662600-133663600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr3:133662600-133663800	Enhancers	Fetal Heart	heart

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