Variant report

Variant	rs11682724
Chromosome Location	chr2:211020411-211020412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10210462	1.00[MEX][hapmap]
rs11887674	1.00[ASN][1000 genomes]
rs11888495	1.00[MEX][hapmap]
rs13426138	1.00[MEX][hapmap]
rs1468731	1.00[ASN][1000 genomes]
rs2041654	0.92[ASW][hapmap];1.00[MEX][hapmap]
rs2539009	1.00[MEX][hapmap]
rs2539866	1.00[ASN][1000 genomes]
rs263671	1.00[MEX][hapmap]
rs263672	1.00[MEX][hapmap]
rs263692	0.85[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs4673499	0.85[ASW][hapmap];0.84[AMR][1000 genomes]
rs60523731	1.00[ASN][1000 genomes]
rs62001905	1.00[ASN][1000 genomes]
rs73984318	1.00[ASN][1000 genomes]
rs7559579	0.92[AMR][1000 genomes]
rs7567227	0.92[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs7573093	1.00[MEX][hapmap]
rs7586674	0.92[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210997200-211022000	Weak transcription	Psoas Muscle	Psoas
2	chr2:211002200-211031400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:211005400-211020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:211005600-211021000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:211006200-211032000	Weak transcription	HUVEC	blood vessel
6	chr2:211008000-211032000	Weak transcription	HSMM	muscle
7	chr2:211008800-211027200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:211009200-211027200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:211010200-211034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:211010400-211027200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:211010800-211022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:211010800-211022200	Weak transcription	Right Ventricle	heart
13	chr2:211010800-211023800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:211010800-211027000	Weak transcription	Small Intestine	intestine
15	chr2:211010800-211030800	Weak transcription	Esophagus	oesophagus
16	chr2:211010800-211033200	Weak transcription	Fetal Brain Male	brain
17	chr2:211010800-211034400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:211011000-211023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:211011000-211027000	Weak transcription	Gastric	stomach
20	chr2:211011000-211027200	Weak transcription	Brain Angular Gyrus	brain
21	chr2:211011000-211027400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:211011000-211031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:211011000-211032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:211011000-211032800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:211011000-211033800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:211011000-211033800	Weak transcription	Ovary	ovary
27	chr2:211011200-211020800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:211011200-211023000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:211011200-211027400	Weak transcription	Osteobl	bone
30	chr2:211011800-211027400	Weak transcription	NHDF-Ad	bronchial
31	chr2:211012000-211027200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:211012200-211022200	Weak transcription	Pancreas	Pancrea
33	chr2:211012200-211022400	Weak transcription	Aorta	Aorta
34	chr2:211012200-211023000	Weak transcription	Lung	lung
35	chr2:211012400-211027000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:211013200-211034000	Weak transcription	Primary B cells from cord blood	blood
37	chr2:211015600-211033800	Weak transcription	Fetal Stomach	stomach
38	chr2:211016200-211027200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:211016400-211022200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:211016600-211031400	Weak transcription	Hela-S3	cervix
41	chr2:211016800-211021000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr2:211018000-211022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:211018600-211033000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:211018800-211020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:211018800-211020800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:211018800-211022800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:211018800-211027200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:211018800-211027200	Weak transcription	Stomach Mucosa	stomach
49	chr2:211018800-211027400	Weak transcription	HepG2	liver
50	chr2:211018800-211034200	Weak transcription	Duodenum Mucosa	Duodenum

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