Variant report

Variant	rs61897391
Chromosome Location	chr11:47381887-47381888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
2	chr11:47372212..47375004-chr11:47380040..47382047,2	MCF-7	breast:
3	chr11:47381478..47383023-chr11:47384952..47387041,2	K562	blood:
4	chr11:47380338..47382124-chr11:47391375..47394972,3	K562	blood:

Variant related genes	Relation type
ENSG00000134571	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17726706	0.82[EUR][1000 genomes]
rs61897389	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897390	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897423	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61897424	0.81[EUR][1000 genomes]
rs61897426	0.81[EUR][1000 genomes]
rs61897429	0.81[EUR][1000 genomes]
rs61897432	0.81[EUR][1000 genomes]
rs61897434	0.81[EUR][1000 genomes]
rs7108608	0.81[EUR][1000 genomes]
rs7112154	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	0.81[EUR][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
2	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
3	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:47377800-47382200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:47377800-47382600	Weak transcription	Fetal Heart	heart
9	chr11:47377800-47382800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:47378600-47382000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:47379800-47382000	Genic enhancers	Spleen	Spleen
13	chr11:47380000-47382000	Enhancers	Right Ventricle	heart
14	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
15	chr11:47380200-47383600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:47380200-47395200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:47380400-47382800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:47380400-47382800	Weak transcription	GM12878-XiMat	blood
22	chr11:47380400-47383600	Enhancers	Dnd41	blood
23	chr11:47380400-47389000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:47380400-47397000	Weak transcription	Lung	lung
25	chr11:47380600-47382200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
26	chr11:47380600-47382200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:47380800-47382000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr11:47380800-47382800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:47380800-47383000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:47380800-47383200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:47381000-47382000	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr11:47381000-47382000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr11:47381000-47382000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:47381000-47382000	Bivalent Enhancer	HepG2	liver
35	chr11:47381000-47383000	Enhancers	Fetal Thymus	thymus
36	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:47381200-47382000	Enhancers	Primary T cells from cord blood	blood
38	chr11:47381200-47382000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:47381200-47382200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
40	chr11:47381200-47384800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:47381400-47382200	Strong transcription	Fetal Intestine Small	intestine
42	chr11:47381400-47382800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:47381600-47382000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:47381600-47382600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:47381600-47382800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:47381600-47382800	Weak transcription	Placenta	Placenta
47	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:47381800-47382000	Enhancers	Adipose Nuclei	Adipose
49	chr11:47381800-47382000	Enhancers	Brain Hippocampus Middle	brain
50	chr11:47381800-47382200	Genic enhancers	Primary B cells from cord blood	blood

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