Variant report

Variant	rs6780845
Chromosome Location	chr3:111486218-111486219
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	chr3:111485259..111488099-chr3:111489878..111491773,2	K562	blood:
2	chr3:111485439..111489234-chr3:111490972..111493959,3	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10934102	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10934103	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs13071304	0.96[EUR][1000 genomes]
rs13085147	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs13090883	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs17423699	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs17424287	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs34307743	0.88[EUR][1000 genomes]
rs34444935	0.88[EUR][1000 genomes]
rs3922703	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs3922705	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4234402	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs4234403	0.89[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234405	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4308247	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4349472	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4373040	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs4405880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4416359	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4429600	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4438630	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4546124	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4642091	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4645114	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs4682058	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682059	0.90[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682060	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682061	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682062	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs4682304	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682307	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682308	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682309	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682311	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs4682315	0.94[EUR][1000 genomes]
rs6438005	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66499316	0.94[EUR][1000 genomes]
rs6762439	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs6763624	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs6768626	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6777540	0.85[YRI][hapmap]
rs6777990	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6782894	0.89[CEU][hapmap]
rs6786443	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs6791845	0.89[CEU][hapmap]
rs6804906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6807045	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68097220	0.98[EUR][1000 genomes]
rs7632963	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7633037	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs7637178	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7640556	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs7641533	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9288929	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9631450	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825915	0.82[YRI][hapmap]
rs9850851	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968124	0.92[EUR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111480200-111492000	Enhancers	Liver	Liver
2	chr3:111481000-111487400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:111481000-111487400	Weak transcription	Right Atrium	heart
4	chr3:111482000-111487400	Weak transcription	Pancreas	Pancrea
5	chr3:111482200-111487200	Weak transcription	Fetal Heart	heart
6	chr3:111482200-111487400	Weak transcription	Left Ventricle	heart
7	chr3:111482600-111487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:111482800-111487200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:111482800-111487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:111483000-111487400	Weak transcription	Fetal Stomach	stomach
11	chr3:111483200-111487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:111483200-111489200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:111483400-111487200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:111483400-111487400	Weak transcription	Fetal Lung	lung
15	chr3:111483800-111487600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:111484000-111486800	Weak transcription	NH-A	brain
17	chr3:111484000-111487400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:111484200-111487000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:111484200-111487000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:111484200-111487200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:111484200-111487200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:111484200-111487200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:111484200-111487600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:111484400-111486400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:111484400-111486800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:111484400-111486800	Weak transcription	Stomach Mucosa	stomach
27	chr3:111484400-111487000	Weak transcription	Hela-S3	cervix
28	chr3:111484400-111487000	Weak transcription	HepG2	liver
29	chr3:111484400-111487000	Weak transcription	NHEK	skin
30	chr3:111484400-111487200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:111484400-111487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:111484400-111487600	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:111484400-111487600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:111484400-111487800	Weak transcription	Fetal Intestine Large	intestine
35	chr3:111484600-111487000	Enhancers	A549	lung
36	chr3:111484600-111487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:111484600-111487400	Weak transcription	Adipose Nuclei	Adipose
38	chr3:111484600-111487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:111484800-111487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:111484800-111487400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:111485400-111489400	Enhancers	NHDF-Ad	bronchial
42	chr3:111486000-111487000	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:111486000-111487200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:111486000-111487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:111486000-111487200	Enhancers	HSMMtube	muscle
46	chr3:111486000-111487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:111486000-111488400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:111486000-111488800	Enhancers	HSMM	muscle
49	chr3:111486000-111489200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:111486000-111489400	Enhancers	Osteobl	bone

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