Variant report

Variant	rs550469
Chromosome Location	chr11:121394511-121394512
allele	A/G
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:20)

rs_ID	r²[population]
rs12798073	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1784927	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs523917	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560573	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs593769	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs596437	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs599161	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs624310	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs633197	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs641120	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs652067	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs656338	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs662821	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs668387	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676759	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs681970	0.84[ASN][1000 genomes]
rs687228	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs689021	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs693855	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923892	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121350000-121401400	Weak transcription	Fetal Brain Male	brain
2	chr11:121368400-121395800	Weak transcription	Fetal Kidney	kidney
3	chr11:121369000-121396800	Weak transcription	Ovary	ovary
4	chr11:121377400-121396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:121378000-121395800	Strong transcription	Primary T cells from cord blood	blood
6	chr11:121378400-121397800	Strong transcription	HepG2	liver
7	chr11:121379200-121395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:121379400-121395800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:121379400-121398000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:121380000-121395600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:121381000-121397000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:121382800-121396600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:121383000-121398800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:121384000-121396200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:121385400-121394600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:121385400-121394600	Weak transcription	Fetal Lung	lung
17	chr11:121385600-121396000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:121385600-121396800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:121385600-121418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:121386200-121396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:121386200-121396600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:121386400-121396200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:121389200-121396400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:121389600-121395800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:121390200-121395000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:121390400-121395400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:121390400-121396600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:121390600-121394800	Weak transcription	Small Intestine	intestine
29	chr11:121390800-121395600	Strong transcription	Fetal Intestine Large	intestine
30	chr11:121390800-121396200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:121391000-121395200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:121391000-121395200	Strong transcription	Dnd41	blood
33	chr11:121391000-121395400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:121391000-121395600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:121391000-121396600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:121391200-121395400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:121391200-121395400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:121391200-121395800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:121391200-121396600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:121391400-121396000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:121391400-121397200	Strong transcription	Liver	Liver
42	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:121391600-121396400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:121391600-121396600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:121391800-121395800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:121392000-121395400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr11:121392200-121394600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:121392200-121395000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:121392200-121395200	Strong transcription	Primary B cells from cord blood	blood
50	chr11:121392400-121394800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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