Variant report

Variant	rs538199
Chromosome Location	chr11:121408694-121408695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1503424	1.00[AMR][1000 genomes]
rs1699107	1.00[AMR][1000 genomes]
rs1790208	1.00[AMR][1000 genomes]
rs1790212	1.00[AMR][1000 genomes]
rs1792123	1.00[AMR][1000 genomes]
rs1792126	1.00[AMR][1000 genomes]
rs1792127	1.00[AMR][1000 genomes]
rs482857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495925	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs546034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551279	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs636588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs656457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs661903	0.95[AFR][1000 genomes]
rs681580	0.88[AFR][1000 genomes];1.00[AMR][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121385600-121418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:121392400-121414800	Weak transcription	Stomach Mucosa	stomach
4	chr11:121393400-121414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:121393600-121415400	Weak transcription	Colonic Mucosa	Colon
6	chr11:121395200-121414000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:121395200-121414400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:121395400-121424600	Weak transcription	Gastric	stomach
10	chr11:121396400-121414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:121396600-121414200	Weak transcription	Pancreas	Pancrea
13	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:121396800-121414000	Weak transcription	Esophagus	oesophagus
15	chr11:121396800-121414200	Weak transcription	Spleen	Spleen
16	chr11:121396800-121414400	Weak transcription	Fetal Lung	lung
17	chr11:121396800-121415400	Weak transcription	Fetal Stomach	stomach
18	chr11:121396800-121417400	Weak transcription	Aorta	Aorta
19	chr11:121396800-121425400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:121397000-121434800	Weak transcription	Fetal Kidney	kidney
21	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:121401400-121409000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:121401800-121414400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:121402200-121408800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:121403200-121414000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:121403200-121414200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:121404000-121409200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:121404600-121412600	Strong transcription	Primary T cells from cord blood	blood
29	chr11:121404600-121412600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:121404600-121437200	Weak transcription	Lung	lung
31	chr11:121404800-121414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:121404800-121417400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:121405000-121408800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:121405000-121408800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:121405400-121409200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:121405400-121414000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:121405400-121414000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:121405400-121414200	Weak transcription	Brain Anterior Caudate	brain
39	chr11:121405400-121421000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:121405800-121420800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:121406000-121409200	Genic enhancers	Fetal Thymus	thymus
43	chr11:121406200-121410400	Weak transcription	NHEK	skin
44	chr11:121406200-121410600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:121406200-121410600	Weak transcription	HMEC	breast
46	chr11:121406200-121414200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:121406200-121417400	Weak transcription	Brain Angular Gyrus	brain
48	chr11:121406200-121423400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:121406400-121409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:121406800-121410600	Weak transcription	Primary hematopoietic stem cells	blood

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