Variant report

Variant	rs523917
Chromosome Location	chr11:121387981-121387982
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12364988	0.80[EUR][1000 genomes]
rs12798073	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784927	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1784934	0.95[JPT][hapmap];0.81[YRI][hapmap]
rs550469	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560573	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs593769	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs596437	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs599161	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs624310	0.89[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs633197	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs641120	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs645275	0.82[JPT][hapmap]
rs652067	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs656338	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs662821	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs668387	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs676759	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs681970	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs687228	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689021	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs693855	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs923892	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121349800-121393000	Weak transcription	Colonic Mucosa	Colon
2	chr11:121350000-121401400	Weak transcription	Fetal Brain Male	brain
3	chr11:121350400-121393200	Weak transcription	Gastric	stomach
4	chr11:121365800-121392600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:121368400-121395800	Weak transcription	Fetal Kidney	kidney
6	chr11:121369000-121396800	Weak transcription	Ovary	ovary
7	chr11:121369400-121391000	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:121375200-121390200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:121375400-121391000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:121377000-121390400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:121377400-121388800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:121377400-121390800	Weak transcription	HMEC	breast
13	chr11:121377400-121394400	Weak transcription	Pancreas	Pancrea
14	chr11:121377400-121396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:121378000-121395800	Strong transcription	Primary T cells from cord blood	blood
16	chr11:121378400-121397800	Strong transcription	HepG2	liver
17	chr11:121378600-121388400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:121379200-121391200	Strong transcription	Primary B cells from cord blood	blood
19	chr11:121379200-121392200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:121379200-121395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:121379400-121389600	Strong transcription	Dnd41	blood
22	chr11:121379400-121390400	Strong transcription	GM12878-XiMat	blood
23	chr11:121379400-121395800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:121379400-121398000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:121380000-121395600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:121380600-121389000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:121381000-121392000	Weak transcription	Stomach Mucosa	stomach
28	chr11:121381000-121397000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:121381600-121391600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:121381600-121394400	Weak transcription	Lung	lung
31	chr11:121382800-121396600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:121383000-121398800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:121383200-121388600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:121383600-121389600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:121383800-121389600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:121383800-121390400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:121384000-121394400	Weak transcription	Aorta	Aorta
38	chr11:121384000-121396200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:121384200-121389000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:121384200-121393200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:121384600-121390800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:121385000-121391200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:121385200-121388800	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:121385200-121393000	Weak transcription	Brain Anterior Caudate	brain
45	chr11:121385400-121388200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:121385400-121390800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:121385400-121392600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:121385400-121394600	Weak transcription	Brain Angular Gyrus	brain
49	chr11:121385400-121394600	Weak transcription	Fetal Lung	lung
50	chr11:121385600-121391000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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