Variant report

Variant	rs2277451
Chromosome Location	chr13:30107067-30107068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1018679	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1018682	0.81[ASN][1000 genomes]
rs12428026	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1411928	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs166828	0.80[CHB][hapmap]
rs1877463	0.80[CHB][hapmap]
rs2026322	0.83[EUR][1000 genomes]
rs2150688	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2150690	1.00[CHB][hapmap]
rs2150693	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2183717	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236499	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2776957	0.83[ASN][1000 genomes]
rs2776959	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2776963	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2802248	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs2802249	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs280922	0.81[CHB][hapmap]
rs280923	0.85[CHB][hapmap]
rs280924	0.80[CHB][hapmap]
rs280930	0.81[CHB][hapmap]
rs280933	0.80[CHB][hapmap]
rs280934	0.80[CHB][hapmap]
rs280936	0.80[CHB][hapmap]
rs2989594	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3011605	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783248	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783257	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783259	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783260	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3783261	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783262	1.00[CHB][hapmap];0.96[JPT][hapmap];0.98[ASN][1000 genomes]
rs3783263	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825536	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476506	0.80[CHB][hapmap]
rs579451	0.80[CHB][hapmap]
rs617892	0.81[CHB][hapmap]
rs6490409	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs72623486	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7997827	0.80[CHB][hapmap]
rs883055	0.83[ASN][1000 genomes]
rs914362	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9550481	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9550482	0.90[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551696	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][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	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30082000-30107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30082800-30111600	Weak transcription	Stomach Mucosa	stomach
4	chr13:30083200-30107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:30084200-30107800	Strong transcription	Esophagus	oesophagus
6	chr13:30084200-30110400	Strong transcription	Fetal Intestine Small	intestine
7	chr13:30084200-30110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:30084200-30112600	Strong transcription	NHEK	skin
9	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:30084400-30111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:30084800-30110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:30084800-30110600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr13:30084800-30111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:30085000-30111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:30085600-30111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
19	chr13:30086000-30110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:30086000-30111200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr13:30087000-30110200	Strong transcription	GM12878-XiMat	blood
22	chr13:30089800-30110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:30094000-30108000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:30095600-30110600	Strong transcription	Thymus	Thymus
28	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:30096000-30110400	Strong transcription	NHLF	lung
30	chr13:30096000-30112600	Weak transcription	Psoas Muscle	Psoas
31	chr13:30096600-30112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:30096800-30111600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:30096800-30112200	Weak transcription	Liver	Liver
34	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:30098000-30117200	Weak transcription	Small Intestine	intestine
36	chr13:30098400-30110800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr13:30099000-30114200	Weak transcription	Fetal Heart	heart
39	chr13:30100000-30107200	Strong transcription	Fetal Thymus	thymus
40	chr13:30100000-30110000	Strong transcription	NH-A	brain
41	chr13:30100200-30110600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:30100200-30111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr13:30100400-30108800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr13:30100400-30111400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:30100400-30112000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:30100600-30107600	Strong transcription	Lung	lung
47	chr13:30100600-30108800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr13:30100600-30110600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:30100600-30110600	Strong transcription	Osteobl	bone
50	chr13:30100800-30109400	Strong transcription	Spleen	Spleen

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