Variant report

Variant	rs73491319
Chromosome Location	chr11:58920348-58920349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58918429..58921129-chr11:58923542..58925704,2	K562	blood:
2	chr11:58912133..58915132-chr11:58919063..58920634,2	K562	blood:
3	chr11:58911468..58913916-chr11:58919063..58921511,3	K562	blood:

Variant related genes	Relation type
ENSG00000166801	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2096585	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2844343	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519287	1.00[AMR][1000 genomes]
rs56963795	1.00[AMR][1000 genomes]
rs58024146	1.00[AMR][1000 genomes]
rs58355571	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58599185	1.00[AMR][1000 genomes]
rs60845282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61149043	1.00[AMR][1000 genomes]
rs61178453	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476939	1.00[AMR][1000 genomes]
rs73483100	1.00[AMR][1000 genomes]
rs73485212	1.00[AMR][1000 genomes]
rs73485235	1.00[AMR][1000 genomes]
rs73487315	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487322	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487327	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489468	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489478	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489480	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489486	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489493	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489497	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58912800-58921400	Weak transcription	Esophagus	oesophagus
2	chr11:58912800-58924000	Weak transcription	Gastric	stomach
3	chr11:58912800-58924200	Weak transcription	Aorta	Aorta
4	chr11:58912800-58925800	Weak transcription	Ovary	ovary
5	chr11:58913000-58922000	Weak transcription	Psoas Muscle	Psoas
6	chr11:58913000-58922600	Weak transcription	Small Intestine	intestine
7	chr11:58913000-58924600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:58913000-58925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:58913200-58921200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:58913200-58922200	Weak transcription	Fetal Stomach	stomach
11	chr11:58913200-58924400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:58913200-58925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:58913200-58925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:58913200-58925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:58913200-58925800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:58913200-58925800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:58913400-58920400	Weak transcription	NH-A	brain
18	chr11:58913400-58922000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:58913400-58922200	Weak transcription	K562	blood
20	chr11:58913600-58922600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:58913800-58922000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:58913800-58923800	Weak transcription	Lung	lung
23	chr11:58913800-58925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:58914000-58925800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:58914200-58921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:58914800-58921800	Strong transcription	Fetal Thymus	thymus
27	chr11:58914800-58922400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:58914800-58922800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:58914800-58925800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:58915400-58921000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:58915600-58922200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:58915800-58921000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:58916200-58921000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:58916200-58921000	Strong transcription	HMEC	breast
35	chr11:58916400-58920400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:58916600-58923000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:58917000-58920400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:58917200-58920400	Strong transcription	NHLF	lung
39	chr11:58917400-58920400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:58917600-58925600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:58917800-58920400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:58918000-58921000	Strong transcription	Dnd41	blood
43	chr11:58918000-58925800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:58918200-58920800	Strong transcription	A549	lung
45	chr11:58918200-58922000	Weak transcription	NHDF-Ad	bronchial
46	chr11:58918400-58925800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:58918800-58920400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:58918800-58920600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:58918800-58920600	Strong transcription	Fetal Intestine Large	intestine
50	chr11:58918800-58920600	Strong transcription	Fetal Kidney	kidney

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