Variant report

Variant	rs491558
Chromosome Location	chr11:58954531-58954532
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	chr11:58938470..58939572-chr11:58953440..58954576,4	K562	blood:

Variant related genes	Relation type
ENSG00000110042	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11229900	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2275991	0.94[ASN][1000 genomes]
rs4938914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6591511	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6591518	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7119212	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7928225	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][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	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs491558	ABLIM1	trans	lymphoblastoid	seeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58941600-58964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:58943400-58954800	Weak transcription	Hela-S3	cervix
3	chr11:58943600-58975400	Weak transcription	NHEK	skin
4	chr11:58947600-58955000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:58949400-58973400	Weak transcription	Right Ventricle	heart
6	chr11:58950000-58978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:58950200-58958600	Weak transcription	Aorta	Aorta
8	chr11:58950400-58957400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:58950400-58972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:58950800-58955800	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:58950800-58957400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:58950800-58957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:58951000-58955400	Enhancers	Brain Angular Gyrus	brain
14	chr11:58951000-58955800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:58951000-58956000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:58951000-58956200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:58951000-58956600	Enhancers	Stomach Smooth Muscle	stomach
18	chr11:58951400-58957200	Enhancers	Placenta	Placenta
19	chr11:58951600-58954800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:58951600-58954800	Enhancers	Colon Smooth Muscle	Colon
21	chr11:58951600-58957800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:58951800-58955000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:58951800-58955000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:58951800-58955200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:58951800-58955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:58951800-58957200	Enhancers	Adipose Nuclei	Adipose
27	chr11:58952000-58954800	Genic enhancers	Fetal Lung	lung
28	chr11:58952200-58954800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:58952200-58954800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:58952200-58955600	Enhancers	Fetal Muscle Leg	muscle
31	chr11:58952400-58955000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:58952400-58960200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:58952600-58955400	Weak transcription	Primary B cells from cord blood	blood
34	chr11:58952600-58957600	Enhancers	Lung	lung
35	chr11:58952800-58954800	Enhancers	HSMM	muscle
36	chr11:58952800-58955600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:58952800-58956400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:58952800-58959400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:58953000-58954800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:58953000-58955400	Enhancers	Liver	Liver
41	chr11:58953000-58956000	Enhancers	Pancreas	Pancrea
42	chr11:58953200-58954600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:58953400-58954600	Enhancers	Esophagus	oesophagus
44	chr11:58953400-58954600	Genic enhancers	GM12878-XiMat	blood
45	chr11:58953400-58955400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:58953400-58955600	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr11:58953400-58956200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:58953400-58958600	Genic enhancers	Fetal Kidney	kidney
49	chr11:58953600-58955600	Enhancers	HSMMtube	muscle
50	chr11:58953600-58956200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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