Variant report

Variant	rs61008775
Chromosome Location	chr3:49086259-49086260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13318132	1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs17080495	1.00[EUR][1000 genomes]
rs17080510	1.00[EUR][1000 genomes]
rs28523319	1.00[EUR][1000 genomes]
rs28615670	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4527417	1.00[EUR][1000 genomes]
rs56760510	1.00[EUR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58914641	1.00[EUR][1000 genomes]
rs58998762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60011446	1.00[EUR][1000 genomes]
rs60338814	1.00[EUR][1000 genomes]
rs61744082	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61749312	1.00[EUR][1000 genomes]
rs72930094	1.00[EUR][1000 genomes]
rs72931155	1.00[EUR][1000 genomes]
rs72931157	1.00[EUR][1000 genomes]
rs72931171	1.00[EUR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936810	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936890	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830703	1.00[EUR][1000 genomes]
rs73830704	1.00[EUR][1000 genomes]
rs73830705	1.00[EUR][1000 genomes]
rs73830706	1.00[EUR][1000 genomes]
rs73833525	1.00[EUR][1000 genomes]
rs9811460	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9833422	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837396	1.00[EUR][1000 genomes]
rs9849446	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9860187	1.00[EUR][1000 genomes]
rs9861805	1.00[EUR][1000 genomes]
rs9869504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9875203	1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][1000 genomes]
rs9877045	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882714	1.00[EUR][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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49066800-49130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49066800-49130200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49067200-49116600	Weak transcription	Right Atrium	heart
4	chr3:49067200-49117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:49067400-49086600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:49067400-49090000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:49067400-49096000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:49067400-49117200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:49067400-49117200	Strong transcription	Fetal Thymus	thymus
10	chr3:49067400-49117400	Strong transcription	Fetal Intestine Small	intestine
11	chr3:49067400-49117400	Strong transcription	Fetal Stomach	stomach
12	chr3:49067400-49117800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:49067400-49118400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:49067600-49086600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:49067600-49086800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:49067600-49095800	Strong transcription	Dnd41	blood
17	chr3:49067600-49097000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:49067600-49117200	Strong transcription	Thymus	Thymus
19	chr3:49067600-49117600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:49067800-49086800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr3:49067800-49086800	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:49067800-49117400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:49070800-49117000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:49071600-49086600	Strong transcription	Osteobl	bone
25	chr3:49072400-49094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:49073400-49118200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:49074200-49096000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:49075600-49087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:49077400-49086800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:49077400-49117200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:49077600-49086400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:49077600-49087000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:49077800-49086600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:49078000-49087200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:49078800-49091200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:49082600-49091800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:49083600-49086600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:49084400-49088600	Weak transcription	K562	blood
39	chr3:49084400-49094000	Weak transcription	Psoas Muscle	Psoas
40	chr3:49084600-49086400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:49084600-49088000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:49084600-49088200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:49084600-49088200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:49084600-49088200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:49084600-49088200	Weak transcription	NHLF	lung
46	chr3:49084600-49088400	Weak transcription	Pancreas	Pancrea
47	chr3:49084600-49088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:49084600-49089000	Weak transcription	Fetal Lung	lung
49	chr3:49084600-49089200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:49084600-49089200	Weak transcription	Aorta	Aorta

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