Variant report

Variant	rs7945629
Chromosome Location	chr11:66922350-66922351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66921484..66924337-chr11:66934219..66936305,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10128545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	1.00[AMR][1000 genomes]
rs11227704	1.00[AMR][1000 genomes]
rs11227705	1.00[AMR][1000 genomes]
rs11227708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227734	1.00[AMR][1000 genomes]
rs11227739	1.00[AMR][1000 genomes]
rs11227741	1.00[AMR][1000 genomes]
rs11227749	1.00[AMR][1000 genomes]
rs11227754	1.00[AMR][1000 genomes]
rs11501507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274690	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275826	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12282851	1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284546	0.89[AFR][1000 genomes]
rs12285582	1.00[AMR][1000 genomes]
rs12286106	1.00[AMR][1000 genomes]
rs12286762	1.00[AMR][1000 genomes]
rs12287003	1.00[AMR][1000 genomes]
rs12287355	1.00[AMR][1000 genomes]
rs12290300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293258	1.00[AMR][1000 genomes]
rs12294777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730309	1.00[AMR][1000 genomes]
rs3730310	1.00[AMR][1000 genomes]
rs4370946	1.00[AMR][1000 genomes]
rs61758504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	1.00[AMR][1000 genomes]
rs7128315	1.00[AMR][1000 genomes]
rs7478885	1.00[AMR][1000 genomes]
rs7928575	1.00[AMR][1000 genomes]
rs948988	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66888600-66922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:66889800-66923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:66890800-66923000	Strong transcription	Fetal Thymus	thymus
4	chr11:66893200-66923000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:66893200-66923400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:66894400-66922400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:66900400-66933800	Weak transcription	Esophagus	oesophagus
8	chr11:66903000-66934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:66903400-66925600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:66904400-66922800	Weak transcription	Colonic Mucosa	Colon
11	chr11:66904400-66934000	Weak transcription	K562	blood
12	chr11:66904600-66928400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:66904800-66927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:66904800-66930400	Weak transcription	Fetal Heart	heart
15	chr11:66905200-66924600	Strong transcription	Fetal Intestine Small	intestine
16	chr11:66905200-66925200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:66906200-66925600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:66906600-66925600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:66907600-66922600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:66907800-66928600	Weak transcription	NHLF	lung
22	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
23	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
24	chr11:66908800-66925400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:66910400-66923000	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:66911600-66925400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:66913200-66922400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:66913600-66922400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:66914400-66929000	Weak transcription	Stomach Mucosa	stomach
30	chr11:66914800-66923000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:66915000-66923000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr11:66916600-66923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:66916600-66923000	Strong transcription	Fetal Intestine Large	intestine
34	chr11:66916600-66924600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:66917000-66923000	Strong transcription	Fetal Stomach	stomach
36	chr11:66917400-66922800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:66917600-66922800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:66918000-66922800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:66918400-66925200	Weak transcription	Brain Angular Gyrus	brain
40	chr11:66918400-66925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:66918400-66928400	Weak transcription	HUVEC	blood vessel
42	chr11:66918600-66924800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:66918600-66925200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:66918600-66925400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66918600-66926800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:66918600-66926800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:66918600-66927000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:66918600-66927000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:66918600-66927400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:66918600-66927600	Weak transcription	NHDF-Ad	bronchial

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