Variant report

Variant	rs55646108
Chromosome Location	chr3:47115687-47115688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47097362..47099843-chr3:47113301..47116271,2	K562	blood:
2	chr3:47115603..47117354-chr3:47121967..47124210,2	K562	blood:
3	chr3:47113958..47116821-chr3:47117778..47119607,2	K562	blood:
4	chr3:47114506..47116285-chr3:47366485..47368143,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs55633581	1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs55832326	1.00[AMR][1000 genomes]
rs56329054	1.00[AMR][1000 genomes]
rs57114752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57341796	1.00[AMR][1000 genomes]
rs58040348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529346	1.00[AMR][1000 genomes]
rs58558054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60017851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60054745	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs60444519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	1.00[AMR][1000 genomes]
rs73831421	1.00[AMR][1000 genomes]
rs73831424	1.00[AMR][1000 genomes]
rs73831425	1.00[AMR][1000 genomes]
rs73831428	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]
rs73831492	1.00[AMR][1000 genomes]
rs73831493	1.00[AMR][1000 genomes]
rs73831496	1.00[AMR][1000 genomes]
rs73831497	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
3	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
6	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
8	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
9	chr3:47089000-47117000	Weak transcription	Fetal Heart	heart
10	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
13	chr3:47095800-47121000	Weak transcription	Fetal Brain Male	brain
14	chr3:47098800-47118200	Weak transcription	NHLF	lung
15	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
18	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:47099000-47118200	Weak transcription	Brain Anterior Caudate	brain
20	chr3:47099000-47121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:47099000-47121800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:47099000-47121800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:47099000-47121800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:47099000-47122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:47099000-47122000	Weak transcription	Gastric	stomach
26	chr3:47099000-47125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:47099000-47128200	Weak transcription	Spleen	Spleen
28	chr3:47099200-47119200	Weak transcription	A549	lung
29	chr3:47099200-47122000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:47100000-47118000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:47100000-47122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:47101000-47125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:47101200-47123800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:47101400-47147800	Strong transcription	Dnd41	blood
35	chr3:47101600-47123800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:47101800-47121800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:47102200-47115800	Weak transcription	Hela-S3	cervix
38	chr3:47103800-47122000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:47104200-47117400	Weak transcription	HUVEC	blood vessel
40	chr3:47105000-47116600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:47105000-47121800	Weak transcription	HMEC	breast
42	chr3:47105200-47117000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:47105200-47118000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:47106000-47117200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:47106200-47121800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:47106800-47121600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:47106800-47121600	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:47107000-47121800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:47107600-47122000	Weak transcription	Ovary	ovary
50	chr3:47107800-47121600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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