Variant report

Variant	rs61732319
Chromosome Location	chr11:65124408-65124409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65123191..65124692-chr11:65148640..65151111,2	K562	blood:
2	chr11:65099781..65103974-chr11:65120675..65126515,7	MCF-7	breast:
3	chr11:65101225..65104158-chr11:65123210..65125603,2	K562	blood:
4	chr11:65123915..65126225-chr16:67902561..67904082,2	K562	blood:
5	chr11:65110991..65113816-chr11:65120865..65125095,4	MCF-7	breast:
6	chr11:65122123..65123729-chr11:65123796..65125400,2	K562	blood:
7	chr11:65122441..65125170-chr11:69458785..69461711,2	MCF-7	breast:
8	chr11:65123264..65125729-chr11:65322609..65324877,2	K562	blood:
9	chr11:65119888..65122132-chr11:65123050..65125503,3	K562	blood:
10	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
11	chr11:65088058..65090877-chr11:65123140..65125273,2	K562	blood:
12	chr11:65099718..65102956-chr11:65121267..65125924,4	MCF-7	breast:
13	chr11:65122241..65124654-chr11:65375609..65378209,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173327	Chromatin interaction
ENSG00000102898	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17145218	0.83[EUR][1000 genomes]
rs2269224	1.00[ASN][1000 genomes]
rs2307266	1.00[ASN][1000 genomes]
rs4149830	0.83[EUR][1000 genomes]
rs4647575	0.97[EUR][1000 genomes]
rs4647576	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647577	0.97[EUR][1000 genomes]
rs4647587	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647599	0.97[EUR][1000 genomes]
rs57994718	0.81[EUR][1000 genomes]
rs60763559	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60933608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736579	1.00[ASN][1000 genomes]
rs7127811	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73482271	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947014	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950149	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
6	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
7	nsv482159	chr11:65122282-65125082	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123000-65124600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
2	chr11:65123200-65125200	Weak transcription	A549	lung
3	chr11:65123400-65124600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:65123400-65124600	Enhancers	Left Ventricle	heart
5	chr11:65123400-65124800	Enhancers	Duodenum Mucosa	Duodenum
6	chr11:65123400-65131200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:65123600-65124600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr11:65123600-65124600	Weak transcription	K562	blood
10	chr11:65123600-65124800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:65123600-65125000	Weak transcription	Liver	Liver
12	chr11:65123600-65125200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:65123600-65125200	Enhancers	HepG2	liver
14	chr11:65123600-65125400	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr11:65123600-65125400	Enhancers	Right Ventricle	heart
16	chr11:65123600-65125600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:65123600-65125600	Weak transcription	Right Atrium	heart
18	chr11:65123600-65127000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
20	chr11:65123800-65125200	Weak transcription	Lung	lung
21	chr11:65123800-65125400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:65123800-65125600	Weak transcription	Esophagus	oesophagus
23	chr11:65123800-65129200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:65123800-65134200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:65124000-65124600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:65124000-65124800	Enhancers	Brain Germinal Matrix	brain
27	chr11:65124000-65124800	Enhancers	Fetal Brain Female	brain
28	chr11:65124000-65125200	Weak transcription	Fetal Brain Male	brain
29	chr11:65124000-65129000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:65124000-65129000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:65124000-65129200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:65124000-65133800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:65124200-65124800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr11:65124200-65129600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:65124400-65124600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:65124400-65124800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:65124400-65124800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:65124400-65125800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:65124400-65127800	Enhancers	Fetal Intestine Small	intestine

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